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

dbVar

Database of genomic structural variation

nsv7148076

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:244,133

Description:GRCh37/hg19 Xp22.11(chrX:23209046-23383351) AND Autism, susceptibility to, X-linked 4

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: 454 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):23,166,042-23,410,174

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7148076	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	23,166,042	23,190,929	23,365,234	23,410,174
nsv7148076	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	23,184,159	23,209,046	23,383,351	23,428,291

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18841911	copy number loss	Multiple	Multiple	AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4; Autism, susceptibility to, X-linked 4	Pathogenic	ClinVar	RCV003328092.1, VCV002579657.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18841911	Remapped	Perfect	NC_000023.11:g.(23 166042_23190929)_( 23365234_23410174) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	23,166,042	23,190,929	23,365,234	23,410,174
nssv18841911	Submitted genomic		NC_000023.10:g.(23 184159_23209046)_( 23383351_23428291) del	GRCh37 (hg19)		NC_000023.10	ChrX	23,184,159	23,209,046	23,383,351	23,428,291

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
nssv18841911	GRCh37: NC_000023.10:g.(23184159_23209046)_(23383351_23428291)del	copy number loss	maternal	AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4; Autism, susceptibility to, X-linked 4	Pathogenic	ClinVar	RCV003328092.1, VCV002579657.1

No genotype data were submitted for this variant

You are here: NCBI