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dbVar

Database of genomic structural variation

nsv6311933

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:106,425

Description:
See descriptions for individual calls in download files

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: 614 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):50,921,849-51,028,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311933	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,921,849	51,028,273
nsv6311933	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	51,148,987	51,255,411

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974358	deletion	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Pathogenic	ClinVar	RCV001884270.3, VCV001387846.3
nssv18791608	duplication	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV003105506.2, VCV002423812.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974358	Remapped	Perfect	NC_000002.12:g.(?_ 50921849)_(5102827 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,921,849	51,028,273
nssv18791608	Remapped	Perfect	NC_000002.12:g.(?_ 50921849)_(5102827 3_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,921,849	51,028,273
nssv17974358	Submitted genomic		NC_000002.11:g.(?_ 51148987)_(5125541 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	51,148,987	51,255,411
nssv18791608	Submitted genomic		NC_000002.11:g.(?_ 51148987)_(5125541 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	51,148,987	51,255,411

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974358	GRCh37: NC_000002.11:g.(?_51148987)_(51255411_?)del	deletion	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Pathogenic	ClinVar	RCV001884270.3, VCV001387846.3
nssv18791608	GRCh37: NC_000002.11:g.(?_51148987)_(51255411_?)dup	duplication	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV003105506.2, VCV002423812.2

No genotype data were submitted for this variant

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