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

dbVar

Database of genomic structural variation

nsv6137736

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:2,032,830

Description:GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 AND Intellectual disability
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 4017 SVs from 88 studies. See in: genome view

Remapped(Score: Good):153,998,066-156,030,895

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137736	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	153,998,066	156,030,895
nsv6137736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	153,263,517	155,260,560

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683510	copy number gain	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001638056.2, VCV001013587.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683510	Remapped	Good	NC_000023.11:g.(?_ 153998066)_(156030 895_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	153,998,066	156,030,895
nssv17683510	Submitted genomic		NC_000023.10:g.(?_ 153263517)_(155260 560_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	153,263,517	155,260,560

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
nssv17683510	GRCh37: NC_000023.10:g.(?_153263517)_(155260560_?)dup	copy number gain	de novo	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001638056.2, VCV001013587.1	2

No genotype data were submitted for this variant

You are here: NCBI