A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534969



Internal ID15504588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53460592..53479765hg38UCSC Ensembl
Innerchr2:53687730..53706903hg19UCSC Ensembl
Innerchr2:53541234..53560407hg18UCSC Ensembl
Innerchr2:53599381..53618554hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3819174
hg1919174
hg1819174
hg1719174
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457862
Supporting Variants
Samples1782681495_A
Known Genes
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)nssv534969
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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