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dbVar

Database of genomic structural variation

nsv4674105

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:416,169

Description:GRCh37/hg19 Xp22.2(chrX:9932157-10348325)x3 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: 668 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):9,964,117-10,380,285

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674105	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	9,964,117	10,380,285
nsv4674105	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	9,932,157	10,348,325

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207521	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001007257.1, VCV000816303.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207521	Remapped	Perfect	NC_000023.11:g.(?_ 9964117)_(10380285 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	9,964,117	10,380,285
nssv16207521	Submitted genomic		NC_000023.10:g.(?_ 9932157)_(10348325 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	9,932,157	10,348,325

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
nssv16207521	GRCh37: NC_000023.10:g.(?_9932157)_(10348325_?)dup	copy number gain	germline	not provided	Likely benign	ClinVar	RCV001007257.1, VCV000816303.1	3

No genotype data were submitted for this variant

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