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dbVar

Database of genomic structural variation

nsv6348952

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:78,698

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: 292 SVs from 41 studies. See in: genome view

Submitted genomic77,915,058-77,993,755

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6348952	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	77,915,058	77,993,755
nsv6348952	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	78,142,184	78,220,881

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18207678	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18207678	Submitted genomic		NC_000002.12:g.779 15058_77993755dup	GRCh38 (hg38)		NC_000002.12	Chr2	77,915,058	77,993,755
nssv18207678	Remapped	Perfect	NC_000002.11:g.781 42184_78220881dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	78,142,184	78,220,881

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)
nssv18207678	<0.001	4	39298

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