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

dbVar

Database of genomic structural variation

nsv4674370

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:219,027

Description:GRCh37/hg19 Xp22.11(chrX:24205066-24424092)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: 445 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):24,186,949-24,405,975

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674370	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	24,186,949	24,405,975
nsv4674370	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	24,205,066	24,424,092

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207532	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001007276.1, VCV000816322.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207532	Remapped	Perfect	NC_000023.11:g.(?_ 24186949)_(2440597 5_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	24,186,949	24,405,975
nssv16207532	Submitted genomic		NC_000023.10:g.(?_ 24205066)_(2442409 2_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	24,205,066	24,424,092

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
nssv16207532	GRCh37: NC_000023.10:g.(?_24205066)_(24424092_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001007276.1, VCV000816322.1	2

No genotype data were submitted for this variant

You are here: NCBI