Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6314421

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XX;t(X;22)(q13;q13) AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Redin et al. 2016, Shao et al. 2021

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 71 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):31,226,472-31,226,472

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,472	31,226,472	+
nsv6314421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nsv6314421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nsv6314421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,615	31,226,615	+
nsv6314421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	63,463,318	63,463,318	+
nsv6314421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	63,463,320	63,463,320	+
nsv6314421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,458	31,622,458	+
nsv6314421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,470	31,622,470	+
nsv6314421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,470	31,622,470	+
nsv6314421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,601	31,622,601	+
nsv6314421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	62,683,198	62,683,198	+
nsv6314421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	62,683,200	62,683,200	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975542	intrachromosomal translocation	Multiple	Multiple	ANTERIOR SEGMENT DYSGENESIS 5; ASGD5; Glaucoma; Glaucoma; Intellectual Disability; Intellectual disability; Intellectual disability; Irido-corneo-trabecular dysgenesis; Peripheral arterial stenosis; Peripheral arterial stenosis; Peters anomaly; Peters anomaly; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Small face; Small face; Unilateral microphthalmos; Unilateral microphthalmos; obsolete Peripheral arterial stenosis	Uncertain significance	ClinVar	RCV000258622.2, VCV000267877.1
nssv17975540	interchromosomal translocation	Multiple	Multiple	ANTERIOR SEGMENT DYSGENESIS 5; ASGD5; Glaucoma; Glaucoma; Intellectual Disability; Intellectual disability; Intellectual disability; Irido-corneo-trabecular dysgenesis; Peripheral arterial stenosis; Peripheral arterial stenosis; Peters anomaly; Peters anomaly; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Small face; Small face; Unilateral microphthalmos; Unilateral microphthalmos; obsolete Peripheral arterial stenosis	Uncertain significance	ClinVar	RCV000258622.2, VCV000267877.1
nssv17975541	interchromosomal translocation	Multiple	Multiple	ANTERIOR SEGMENT DYSGENESIS 5; ASGD5; Glaucoma; Glaucoma; Intellectual Disability; Intellectual disability; Intellectual disability; Irido-corneo-trabecular dysgenesis; Peripheral arterial stenosis; Peripheral arterial stenosis; Peters anomaly; Peters anomaly; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Small face; Small face; Unilateral microphthalmos; Unilateral microphthalmos; obsolete Peripheral arterial stenosis	Uncertain significance	ClinVar	RCV000258622.2, VCV000267877.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975542	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,472	31,226,472	+
nssv17975540	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nssv17975541	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nssv17975542	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,615	31,226,615	+
nssv17975541	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	63,463,318	63,463,318	+
nssv17975540	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	63,463,320	63,463,320	+
nssv17975542	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,458	31,622,458	+
nssv17975540	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,470	31,622,470	+
nssv17975541	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,470	31,622,470	+
nssv17975542	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,601	31,622,601	+
nssv17975541	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	62,683,198	62,683,198	+
nssv17975540	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	62,683,200	62,683,200	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975542	intrachromosomal translocation	unknown	ANTERIOR SEGMENT DYSGENESIS 5; ASGD5; Glaucoma; Glaucoma; Intellectual Disability; Intellectual disability; Intellectual disability; Irido-corneo-trabecular dysgenesis; Peripheral arterial stenosis; Peripheral arterial stenosis; Peters anomaly; Peters anomaly; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Small face; Small face; Unilateral microphthalmos; Unilateral microphthalmos; obsolete Peripheral arterial stenosis	Uncertain significance	ClinVar	RCV000258622.2, VCV000267877.1
nssv17975540	interchromosomal translocation	unknown	ANTERIOR SEGMENT DYSGENESIS 5; ASGD5; Glaucoma; Glaucoma; Intellectual Disability; Intellectual disability; Intellectual disability; Irido-corneo-trabecular dysgenesis; Peripheral arterial stenosis; Peripheral arterial stenosis; Peters anomaly; Peters anomaly; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Small face; Small face; Unilateral microphthalmos; Unilateral microphthalmos; obsolete Peripheral arterial stenosis	Uncertain significance	ClinVar	RCV000258622.2, VCV000267877.1
nssv17975541	interchromosomal translocation	unknown	ANTERIOR SEGMENT DYSGENESIS 5; ASGD5; Glaucoma; Glaucoma; Intellectual Disability; Intellectual disability; Intellectual disability; Irido-corneo-trabecular dysgenesis; Peripheral arterial stenosis; Peripheral arterial stenosis; Peters anomaly; Peters anomaly; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Small face; Small face; Unilateral microphthalmos; Unilateral microphthalmos; obsolete Peripheral arterial stenosis	Uncertain significance	ClinVar	RCV000258622.2, VCV000267877.1

No genotype data were submitted for this variant

You are here: NCBI