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dbVar

Database of genomic structural variation

nsv3877736

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:449,956

Description:GRCh37/hg19 Xp21.1(chrX:31533207-31983162)x0 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: 953 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):31,515,090-31,965,045

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3877736	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,515,090	31,965,045
nsv3877736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,533,207	31,983,162

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15174841	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000753461.2, VCV000616825.2	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15174841	Remapped	Perfect	NC_000023.11:g.(?_ 31515090)_(3196504 5_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,515,090	31,965,045
nssv15174841	Submitted genomic		NC_000023.10:g.(?_ 31533207)_(3198316 2_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,533,207	31,983,162

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
nssv15174841	GRCh37: NC_000023.10:g.(?_31533207)_(31983162_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000753461.2, VCV000616825.2	0

No genotype data were submitted for this variant

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