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dbVar

Database of genomic structural variation

nsv6116369

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:133,801

Description:nsv5427203 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 689 SVs from 70 studies. See in: genome view

Remapped(Score: Good):48,005,800-48,139,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6116369	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	48,005,800	48,139,600
nsv6116369	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	47,865,198	47,999,028

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17967410	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17967410	Remapped	Good	NC_000023.11:g.480 05800_48139600dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	48,005,800	48,139,600
nssv17967410	Submitted genomic		NC_000023.10:g.478 65198_47999028dup	GRCh37 (hg19)		NC_000023.10	ChrX	47,865,198	47,999,028

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17967410	0.018	84	4743

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