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dbVar

Database of genomic structural variation

nsv4578241

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:32,354,994

Description:GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 AND Premature ovarian insufficiency

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: 50026 SVs from 108 studies. See in: genome view

Remapped(Score: Good):123,623,586-155,978,579

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4578241	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	123,623,586	155,978,579
nsv4578241	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	122,757,437	155,208,244

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091664	copy number loss	Multiple	Multiple	Premature ovarian insufficiency; Premature ovarian insufficiency	Likely pathogenic	ClinVar	RCV000852349.2, VCV000625854.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091664	Remapped	Good	NC_000023.11:g.123 623586_155978579de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,623,586	155,978,579
nssv16091664	Submitted genomic		NC_000023.10:g.122 757437_155208244de l	GRCh37 (hg19)		NC_000023.10	ChrX	122,757,437	155,208,244

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	Copy number
nssv16091664	GRCh37: NC_000023.10:g.122757437_155208244del	copy number loss	unknown	Premature ovarian insufficiency; Premature ovarian insufficiency	Likely pathogenic	ClinVar	RCV000852349.2, VCV000625854.2	1

No genotype data were submitted for this variant

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