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dbVar

Database of genomic structural variation

nsv3112671

Organism: Homo sapiens

Study:nstd145 (Lu et al. 2017)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:2,596

Publication(s):Lu et al. 2017

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: 338 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):245,276,433-245,279,028

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3112671	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	245,276,433	245,279,028
nsv3112671	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	245,439,735	245,442,330

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14085114	deletion	sample195	Oligo aCGH	Probe signal intensity	30
nssv14105152	deletion	sample57	Oligo aCGH	Probe signal intensity	34
nssv14108084	deletion	sample94	Oligo aCGH	Probe signal intensity	28

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14085114	Remapped	Perfect	NC_000001.11:g.(?_ 245276433)_(245279 028_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	245,276,433	245,279,028
nssv14105152	Remapped	Perfect	NC_000001.11:g.(?_ 245276433)_(245279 028_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	245,276,433	245,279,028
nssv14108084	Remapped	Perfect	NC_000001.11:g.(?_ 245276433)_(245279 028_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	245,276,433	245,279,028
nssv14085114	Submitted genomic		NC_000001.10:g.(?_ 245439735)_(245442 330_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	245,439,735	245,442,330
nssv14105152	Submitted genomic		NC_000001.10:g.(?_ 245439735)_(245442 330_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	245,439,735	245,442,330
nssv14108084	Submitted genomic		NC_000001.10:g.(?_ 245439735)_(245442 330_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	245,439,735	245,442,330

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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