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dbVar

Database of genomic structural variation

nsv3118360

Organism: Homo sapiens

Study:nstd149 (Gambin et al. 2017)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:GRCh37 (hg19)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:154,641

Publication(s):Gambin 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: 372 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):49,785,058-49,939,698

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3118360	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	49,785,058	49,939,698
nsv3118360	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	50,250,730	50,405,370

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis
nssv14109489	copy number loss	AGBL4_Pt11	Oligo aCGH	Curated
nssv14109490	copy number loss	AGBL4_Pt12	Oligo aCGH	Curated
nssv14109491	copy number loss	AGBL4_Pt13	Oligo aCGH	Curated
nssv14109492	copy number loss	AGBL4_Pt14	Oligo aCGH	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14109489	Remapped	Perfect	NC_000001.11:g.497 85058_49939698del	GRCh38.p12	First Pass	NC_000001.11	Chr1	49,785,058	49,939,698
nssv14109490	Remapped	Perfect	NC_000001.11:g.497 85058_49939698del	GRCh38.p12	First Pass	NC_000001.11	Chr1	49,785,058	49,939,698
nssv14109491	Remapped	Perfect	NC_000001.11:g.497 85058_49939698del	GRCh38.p12	First Pass	NC_000001.11	Chr1	49,785,058	49,939,698
nssv14109492	Remapped	Perfect	NC_000001.11:g.497 85058_49939698del	GRCh38.p12	First Pass	NC_000001.11	Chr1	49,785,058	49,939,698
nssv14109489	Submitted genomic		NC_000001.10:g.502 50730_50405370del	GRCh37 (hg19)		NC_000001.10	Chr1	50,250,730	50,405,370
nssv14109490	Submitted genomic		NC_000001.10:g.502 50730_50405370del	GRCh37 (hg19)		NC_000001.10	Chr1	50,250,730	50,405,370
nssv14109491	Submitted genomic		NC_000001.10:g.502 50730_50405370del	GRCh37 (hg19)		NC_000001.10	Chr1	50,250,730	50,405,370
nssv14109492	Submitted genomic		NC_000001.10:g.502 50730_50405370del	GRCh37 (hg19)		NC_000001.10	Chr1	50,250,730	50,405,370

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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