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

dbVar

Database of genomic structural variation

nsv4452299

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:125,501

Description:GRCh37/hg19 Xq22.1(chrX:102385805-102511305)x2 AND not provided

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: 298 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):103,130,877-103,256,377

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4452299	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	103,130,877	103,256,377
nsv4452299	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	102,385,805	102,511,305

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15771875	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000845746.2, VCV000685038.2	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15771875	Remapped	Perfect	NC_000023.11:g.(?_ 103130877)_(103256 377_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,130,877	103,256,377
nssv15771875	Submitted genomic		NC_000023.10:g.(?_ 102385805)_(102511 305_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	102,385,805	102,511,305

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
nssv15771875	GRCh37: NC_000023.10:g.(?_102385805)_(102511305_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000845746.2, VCV000685038.2	2

No genotype data were submitted for this variant

You are here: NCBI