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dbVar

Database of genomic structural variation

nsv4674402

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:8,638

Description:GRCh37/hg19 4q31.3(chr4:154316483-154325120) AND Premature ovarian failure

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: 118 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):153,395,331-153,403,968

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4674402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	153,395,331	153,403,968
nsv4674402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	154,316,483	154,325,120

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16206490	copy number loss	Multiple	Multiple	PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure	Likely pathogenic	ClinVar	RCV001002728.1, VCV000812128.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16206490	Remapped	Perfect	NC_000004.12:g.153 395331_153403968de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	153,395,331	153,403,968
nssv16206490	Submitted genomic		NC_000004.11:g.154 316483_154325120de l	GRCh37 (hg19)		NC_000004.11	Chr4	154,316,483	154,325,120

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
nssv16206490	GRCh37: NC_000004.11:g.154316483_154325120del	copy number loss	see ClinVar for details	PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure	Likely pathogenic	ClinVar	RCV001002728.1, VCV000812128.1

No genotype data were submitted for this variant

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