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dbVar

Database of genomic structural variation

nsv3111648

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:5,932

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: 129 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):75,830,931-75,836,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3111648	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	75,830,931	75,836,862
nsv3111648	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	76,224,711	76,230,642

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14090375	deletion	sample15	Oligo aCGH	Probe signal intensity	87
nssv14091546	deletion	sample68	Oligo aCGH	Probe signal intensity	72
nssv14092720	deletion	sample110	Oligo aCGH	Probe signal intensity	72

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14090375	Remapped	Perfect	NC_000012.12:g.(?_ 75830931)_(7583686 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	75,830,931	75,836,862
nssv14091546	Remapped	Perfect	NC_000012.12:g.(?_ 75830931)_(7583686 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	75,830,931	75,836,862
nssv14092720	Remapped	Perfect	NC_000012.12:g.(?_ 75830931)_(7583686 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	75,830,931	75,836,862
nssv14090375	Submitted genomic		NC_000012.11:g.(?_ 76224711)_(7623064 2_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	76,224,711	76,230,642
nssv14091546	Submitted genomic		NC_000012.11:g.(?_ 76224711)_(7623064 2_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	76,224,711	76,230,642
nssv14092720	Submitted genomic		NC_000012.11:g.(?_ 76224711)_(7623064 2_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	76,224,711	76,230,642

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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