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dbVar

Database of genomic structural variation

nsv6268575

Organism: Homo sapiens

Study:nstd214 (Naslavsky 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:158

Publication(s):Naslavsky 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: 131 SVs from 37 studies. See in: genome view

Submitted genomic30,815,755-30,815,912

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6268575	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	30,815,755	30,815,912
nsv6268575	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	30,783,532	30,783,689

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17883353	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17883353	Submitted genomic		NC_000006.12:g.308 15755_30815912del	GRCh38 (hg38)		NC_000006.12	Chr6	30,815,755	30,815,912
nssv17883353	Remapped	Perfect	NC_000006.11:g.307 83532_30783689del	GRCh37.p13	First Pass	NC_000006.11	Chr6	30,783,532	30,783,689

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)
nssv17883353	0.012	27	2304

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