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dbVar

Database of genomic structural variation

nsv7141141

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: 333 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):579,109-579,109

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7141141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	579,109	579,109
nsv7141141	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_017363817.1	Chr17\|NW_0 17363817.1	138,586	138,586
nsv7141141	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000017.10	Chr17	482,349	482,349

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18836010	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18836010	Remapped	Perfect	NW_017363817.1:g.1 38586_138587ins64	GRCh38.p12	Second Pass	NW_017363817.1	Chr17\|NW_0 17363817.1	138,586	138,586
nssv18836010	Remapped	Perfect	NC_000017.11:g.579 109_579110ins64	GRCh38.p12	First Pass	NC_000017.11	Chr17	579,109	579,109
nssv18836010	Submitted genomic		NC_000017.10:g.482 349_482350ins64	GRCh37.p13		NC_000017.10	Chr17	482,349	482,349

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)
nssv18836010	0.5	1	2

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