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dbVar

Database of genomic structural variation

nsv4685953

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:2,826,327

Description:GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) AND Microcephaly

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: 3425 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):41,290,886-44,117,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv4685953	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	41,290,886	44,117,212
nsv4685953	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	41,150,139	43,976,458

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216875	copy number loss	Multiple	Multiple	Microcephaly; Microcephaly	Pathogenic	ClinVar	RCV001252950.1, VCV000813719.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv16216875	Remapped	Perfect	NC_000023.11:g.(41 290886_?)_(?_44117 212)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	41,290,886	44,117,212
nssv16216875	Submitted genomic		NC_000023.10:g.(41 150139_?)_(?_43976 458)del	GRCh37 (hg19)		NC_000023.10	ChrX	41,150,139	43,976,458

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
nssv16216875	GRCh37: NC_000023.10:g.(41150139_?)_(?_43976458)del	copy number loss	germline	Microcephaly; Microcephaly	Pathogenic	ClinVar	RCV001252950.1, VCV000813719.1

No genotype data were submitted for this variant

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