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dbVar

Database of genomic structural variation

nsv4728680

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:297,857

Description:GRCh37/hg19 Xp21.1(chrX:31778982-32076838)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: 787 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):31,760,865-32,058,721

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4728680	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,760,865	32,058,721
nsv4728680	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,778,982	32,076,838

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255119	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001258961.2, VCV000979785.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255119	Remapped	Perfect	NC_000023.11:g.(?_ 31760865)_(3205872 1_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,760,865	32,058,721
nssv16255119	Submitted genomic		NC_000023.10:g.(?_ 31778982)_(3207683 8_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,778,982	32,076,838

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
nssv16255119	GRCh37: NC_000023.10:g.(?_31778982)_(32076838_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001258961.2, VCV000979785.2	1

No genotype data were submitted for this variant

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