A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522718



Internal ID15103325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216685806..216694012hg38UCSC Ensembl
Innerchr2:217550529..217558735hg19UCSC Ensembl
Innerchr2:217258774..217266980hg18UCSC Ensembl
Innerchr2:217376035..217384241hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg388207
hg198207
hg188207
hg178207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698348
Samples
Known GenesIGFBP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522718
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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