A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536717



Internal ID15160071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216660520..216694012hg38UCSC Ensembl
Innerchr2:217525243..217558735hg19UCSC Ensembl
Innerchr2:217233488..217266980hg18UCSC Ensembl
Innerchr2:217350749..217384241hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3833493
hg1933493
hg1833493
hg1733493
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460098
Supporting Variants
SamplesHGDP00551
Known GenesIGFBP2, IGFBP5
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv536717
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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