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dbVar

Database of genomic structural variation

nsv7146821

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:59

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: 300 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):309,566-309,624

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7146821	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	309,566	309,624
nsv7146821	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315952.3	Chr17\|NW_0 03315952.3	279,204	279,262
nsv7146821	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000017.10	Chr17	159,357	159,415

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18841014	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841014	Remapped	Perfect	NW_003315952.3:g.2 79204_279262del	GRCh38.p12	Second Pass	NW_003315952.3	Chr17\|NW_0 03315952.3	279,204	279,262
nssv18841014	Remapped	Perfect	NC_000017.11:g.309 566_309624del	GRCh38.p12	First Pass	NC_000017.11	Chr17	309,566	309,624
nssv18841014	Submitted genomic		NC_000017.10:g.159 357_159415del	GRCh37.p13		NC_000017.10	Chr17	159,357	159,415

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)
nssv18841014	0.5	2	4

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