A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536648



Internal ID15162201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202742031..202843584hg38UCSC Ensembl
Innerchr2:203606754..203708307hg19UCSC Ensembl
Innerchr2:203314999..203416552hg18UCSC Ensembl
Innerchr2:203432260..203533813hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38101554
hg19101554
hg18101554
hg17101554
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460020
Supporting Variants
SamplesHGDP00912
Known GenesFAM117B, ICA1L
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)nssv536648
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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