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

dbVar

Database of genomic structural variation

nsv6137735

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:465,861

Description:GRCh37/hg19 Xq28(chrX:153194251-153623000)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: 761 SVs from 68 studies. See in: genome view

Remapped(Score: Pass):153,928,798-154,394,658

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137735	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	153,928,798	154,394,658
nsv6137735	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	153,194,251	153,623,000

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683509	copy number gain	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001638055.2, VCV001013586.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683509	Remapped	Pass	NC_000023.11:g.(?_ 153928798)_(154394 658_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	153,928,798	154,394,658
nssv17683509	Submitted genomic		NC_000023.10:g.(?_ 153194251)_(153623 000_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	153,194,251	153,623,000

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
nssv17683509	GRCh37: NC_000023.10:g.(?_153194251)_(153623000_?)dup	copy number gain	maternal	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001638055.2, VCV001013586.1	2

No genotype data were submitted for this variant

You are here: NCBI