A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536743



Internal ID15503952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232775199..232849976hg38UCSC Ensembl
Innerchr2:233639909..233714686hg19UCSC Ensembl
Innerchr2:233348153..233422930hg18UCSC Ensembl
Innerchr2:233465414..233540191hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3874778
hg1974778
hg1874778
hg1774778
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460134
Supporting Variants
Samples1780862466_A
Known GenesGIGYF2, KCNJ13
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)nssv536743
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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