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dbVar

Database of genomic structural variation

nsv6524215

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:8,233

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: 163 SVs from 28 studies. See in: genome view

Submitted genomic12,964,806-12,973,038

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6524215	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	12,964,806	12,973,038
nsv6524215	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	13,075,620	13,083,852

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18197361	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18197361	Submitted genomic		NC_000019.10:g.129 64806_12973038dup	GRCh38 (hg38)		NC_000019.10	Chr19	12,964,806	12,973,038
nssv18197361	Remapped	Perfect	NC_000019.9:g.1307 5620_13083852dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	13,075,620	13,083,852

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)
nssv18197361	<0.001	1	39234

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