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dbVar

Database of genomic structural variation

nsv5200295

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:207,379

Description:GRCh37/hg19 Xq26.2(chrX:132717085-132924462) AND Global developmental delay
Publication(s):Manickam et al. 2021, Michelson et al. 2011

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: 273 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):133,583,057-133,790,435

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5200295	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	133,583,057	133,790,435
nsv5200295	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	132,717,085	132,924,462

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16736619	copy number loss	Multiple	Multiple	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV001291961.1, VCV000997060.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16736619	Remapped	Perfect	NC_000023.11:g.(?_ 133583057)_(133790 435_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	133,583,057	133,790,435
nssv16736619	Submitted genomic		NC_000023.10:g.(?_ 132717085)_(132924 462_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	132,717,085	132,924,462

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
nssv16736619	GRCh37: NC_000023.10:g.(?_132717085)_(132924462_?)del	copy number loss	de novo	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV001291961.1, VCV000997060.1

No genotype data were submitted for this variant

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