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dbVar

Database of genomic structural variation

nsv4452333

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:8,185,317

Description:GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 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: 10779 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):13,944,799-22,130,115

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4452333	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	13,944,799	22,130,115
nsv4452333	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	13,962,918	22,148,232

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773512	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849766.2, VCV000689075.2	2
nssv15773513	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849768.2, VCV000689077.2	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773512	Remapped	Perfect	NC_000023.11:g.(?_ 13944799)_(2213011 5_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	13,944,799	22,130,115
nssv15773513	Remapped	Perfect	NC_000023.11:g.(?_ 13944799)_(2213011 5_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	13,944,799	22,130,115
nssv15773512	Submitted genomic		NC_000023.10:g.(?_ 13962918)_(2214823 2_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	13,962,918	22,148,232
nssv15773513	Submitted genomic		NC_000023.10:g.(?_ 13962918)_(2214823 2_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	13,962,918	22,148,232

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
nssv15773512	GRCh37: NC_000023.10:g.(?_13962918)_(22148232_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000849766.2, VCV000689075.2	2
nssv15773513	GRCh37: NC_000023.10:g.(?_13962918)_(22148232_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000849768.2, VCV000689077.2	2

No genotype data were submitted for this variant

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