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dbVar

Database of genomic structural variation

nsv6378362

Organism: Homo sapiens

Study:nstd223 (Sedlazeck 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:1,900

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: 135 SVs from 29 studies. See in: genome view

Submitted genomic143,552,801-143,554,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6378362	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	143,552,801	143,554,700
nsv6378362	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	144,473,954	144,475,853

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18110188	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18110188	Submitted genomic		NC_000004.12:g.143 552801_143554700de l	GRCh38 (hg38)		NC_000004.12	Chr4	143,552,801	143,554,700
nssv18110188	Remapped	Perfect	NC_000004.11:g.144 473954_144475853de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	144,473,954	144,475,853

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)
nssv18110188	<0.001	11	38930

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