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dbVar

Database of genomic structural variation

nsv6141099

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:61

Publication(s):Byrska-Bishop et al. 2022

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: 103 SVs from 25 studies. See in: genome view

Submitted genomic80,529,907-80,529,967

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6141099	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	80,529,907	80,529,967
nsv6141099	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	79,825,726	79,825,786

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16967019	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16967019	Submitted genomic		NC_000005.10:g.805 29907_80529967dup	GRCh38 (hg38)		NC_000005.10	Chr5	80,529,907	80,529,967
nssv16967019	Remapped	Perfect	NC_000005.9:g.7982 5726_79825786dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	79,825,726	79,825,786

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)
nssv16967019	0.089	557	6252

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