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dbVar

Database of genomic structural variation

nsv6340385

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:5,398

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: 149 SVs from 19 studies. See in: genome view

Submitted genomic175,177,172-175,182,569

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6340385	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	175,177,172	175,182,569
nsv6340385	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	176,041,900	176,047,297

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18081977	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18081977	Submitted genomic		NC_000002.12:g.175 177172_175182569de l	GRCh38 (hg38)		NC_000002.12	Chr2	175,177,172	175,182,569
nssv18081977	Remapped	Perfect	NC_000002.11:g.176 041900_176047297de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	176,041,900	176,047,297

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)
nssv18081977	<0.001	1	39174

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