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dbVar

Database of genomic structural variation

nsv4674013

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:356,487

Description:GRCh37/hg19 Xp11.3(chrX:42632238-42988722)x1 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: 533 SVs from 50 studies. See in: genome view

Remapped(Score: Good):42,772,987-43,129,473

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674013	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	42,772,987	43,129,473
nsv4674013	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	42,632,238	42,988,722

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208631	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001007297.1, VCV000816343.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208631	Remapped	Good	NC_000023.11:g.(?_ 42772987)_(4312947 3_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	42,772,987	43,129,473
nssv16208631	Submitted genomic		NC_000023.10:g.(?_ 42632238)_(4298872 2_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	42,632,238	42,988,722

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
nssv16208631	GRCh37: NC_000023.10:g.(?_42632238)_(42988722_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001007297.1, VCV000816343.1	1

No genotype data were submitted for this variant

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