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dbVar

Database of genomic structural variation

nsv7140715

Organism: Homo sapiens

Study:nstd232 (Keane et al. 2023)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37

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

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: 339 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):2,086,407-2,086,407

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7140715	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000008.11	Chr8	2,086,407	2,086,407
nsv7140715	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187576.1	Chr8\|NT_18 7576.1	269,394	269,394
nsv7140715	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000008.10	Chr8	2,034,184	2,034,184

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18834505	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18834505	Remapped	Perfect	NT_187576.1:g.2693 94_269395ins54	GRCh38.p12	First Pass	NT_187576.1	Chr8\|NT_18 7576.1	269,394	269,394
nssv18834505	Remapped	Perfect	NC_000008.11:g.208 6407_2086408ins54	GRCh38.p12	Second Pass	NC_000008.11	Chr8	2,086,407	2,086,407
nssv18834505	Submitted genomic		NC_000008.10:g.203 4184_2034185ins54	GRCh37.p13		NC_000008.10	Chr8	2,034,184	2,034,184

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18834505	0.5	1	2

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