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dbVar

Database of genomic structural variation

nsv5874379

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:54,846

Publication(s):Almarri et al. 2020

Links to Other Resources

Overlapping Genes

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: 1186 SVs from 47 studies. See in: genome view

Submitted genomic1,178,727-1,233,572

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5874379	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	1,178,727	1,233,572
nsv5874379	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	1,314,236	1,352,465

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17436487	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17436487	Submitted genomic		NC_000023.11:g.117 8727_1233572dup	GRCh38 (hg38)		NC_000023.11	ChrX	1,178,727	1,233,572
nssv17436487	Remapped	Pass	NC_000023.10:g.131 4236_1352465dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	1,314,236	1,352,465

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17436487	<0.001	1	704

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