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dbVar

Database of genomic structural variation

nsv4046716

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:5,926

Publication(s):gnomAD_Structural_Variants

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: 130 SVs from 12 studies. See in: genome view

Remapped(Score: Perfect):12,919,255-12,925,180

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4046716	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nsv4046716	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000001.10	Chr1	12,979,075	12,985,000

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
nssv15780788	copy number variation	Sequencing	Other	4
nssv15780789	copy number variation	Sequencing	Other	5
nssv15780790	copy number variation	Sequencing	Other	6
nssv15794651	copy number variation	Sequencing	Other	0
nssv15794652	copy number variation	Sequencing	Other	1
nssv15794653	copy number variation	Sequencing	Other	2
nssv15794654	copy number variation	Sequencing	Other	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15780788	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15780789	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15780790	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15794651	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15794652	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15794653	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15794654	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,919,255	12,925,180
nssv15780788	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000
nssv15780789	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000
nssv15780790	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000
nssv15794651	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000
nssv15794652	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000
nssv15794653	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000
nssv15794654	Submitted genomic		GRCh37.p13		NC_000001.10	Chr1	12,979,075	12,985,000

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)
nssv15780788	0.029	311	10847
nssv15780789	<0.001	6	10847
nssv15780790	9.2e-005	1	10847
nssv15794651	<0.001	5	10847
nssv15794652	0.018	198	10847
nssv15794653	0.513	5567	10847
nssv15794654	0.439	4759	10847

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