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dbVar

Database of genomic structural variation

nsv6132129

Organism: Homo sapiens

Study:nstd213 (Pham et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:278,496

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: 649 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):111,171,687-111,450,182

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6132129	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	111,171,687	111,171,689	111,450,180	111,450,182
nsv6132129	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	111,609,491	111,609,493	111,887,984	111,887,986

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17678143	duplication	SAMN20524657	Sequencing	Paired-end mapping	656

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17678143	Remapped	Perfect	NC_000012.12:g.(11 1171687_111171689) _(111450180_111450 182)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	111,171,687	111,171,689	111,450,180	111,450,182
nssv17678143	Submitted genomic		NC_000012.11:g.(11 1609491_111609493) _(111887984_111887 986)dup	GRCh37 (hg19)		NC_000012.11	Chr12	111,609,491	111,609,493	111,887,984	111,887,986

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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