Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4679734

Organism: Homo sapiens

Study:nstd189 (Perez-Palma et al. 2020)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:1,606,422

Publication(s):Pérez-Palma et al. 2020

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: 6600 SVs from 113 studies. See in: genome view

Remapped(Score: Pass):18,348,052-19,954,473

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4679734	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nsv4679734	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000014.8	Chr14	19,124,529	20,422,632

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16209095	deletion	SNP array	SNP genotyping analysis
nssv16209463	duplication	SNP array	SNP genotyping analysis
nssv16209747	deletion	SNP array	SNP genotyping analysis
nssv16209763	duplication	SNP array	SNP genotyping analysis
nssv16210080	duplication	SNP array	SNP genotyping analysis
nssv16210992	deletion	SNP array	SNP genotyping analysis
nssv16211003	duplication	SNP array	SNP genotyping analysis
nssv16211044	duplication	SNP array	SNP genotyping analysis
nssv16211527	deletion	SNP array	SNP genotyping analysis

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16209095	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16209463	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16209747	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16209763	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16210080	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16210992	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16211003	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16211044	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16211527	Remapped	Pass	NC_000014.9:g.(?_1 8348052)_(19954473 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	18,348,052	19,954,473
nssv16209095	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)del	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16209463	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)dup	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16209747	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)del	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16209763	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)dup	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16210080	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)dup	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16210992	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)del	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16211003	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)dup	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16211044	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)dup	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632
nssv16211527	Submitted genomic		NC_000014.8:g.(?_1 9124529)_(20422632 _?)del	GRCh37.p13		NC_000014.8	Chr14	19,124,529	20,422,632

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)
nssv16209095	0.001
nssv16209463	0.001
nssv16209747	0.001
nssv16209763	0.005
nssv16210080	0.001
nssv16210992	0.001
nssv16211003	0.002
nssv16211044	0.007
nssv16211527	0.001

You are here: NCBI