A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535864



Internal ID15161550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:114737565..114841436hg38UCSC Ensembl
Innerchr2:115495142..115599013hg19UCSC Ensembl
Innerchr2:115211612..115315483hg18UCSC Ensembl
Innerchr2:115211372..115315243hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38103872
hg19103872
hg18103872
hg17103872
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459019
Supporting Variants
SamplesHGDP00786
Known GenesDPP10
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)nssv535864
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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