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dbVar

Database of genomic structural variation

nsv939387

Organism: Homo sapiens

Study:nstd84 (de Ligt et al. 2013)
Variant Type:copy number variation
Method Type:Oligo aCGH, SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:74,391

Publication(s):de Ligt et al. 2013

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: 508 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):81,746,078-81,820,468

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
nsv939387	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	81,746,078	81,746,078	81,820,468	81,820,468
nsv939387	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	81,779,683	81,779,683	81,854,073	81,854,073

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1669337	copy number gain	3	Oligo aCGH	Probe signal intensity	3	1,181
nssv1670305	copy number gain	3	SNP array	SNP genotyping analysis	3	1,181

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv1669337	Remapped	Perfect	NC_000016.10:g.(81 746078_?)_(?_81820 468)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	81,746,078	81,820,468
nssv1670305	Remapped	Perfect	NC_000016.10:g.(81 748462_?)_(?_81817 559)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	81,748,462	81,817,559
nssv1669337	Submitted genomic		NC_000016.9:g.(817 79683_?)_(?_818540 73)dup	GRCh37 (hg19)		NC_000016.9	Chr16	81,779,683	81,854,073
nssv1670305	Submitted genomic		NC_000016.9:g.(817 82067_?)_(?_818511 64)dup	GRCh37 (hg19)		NC_000016.9	Chr16	81,782,067	81,851,164

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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