A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536749



Internal ID15512711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234990715..235041640hg38UCSC Ensembl
Innerchr2:235899359..235950284hg19UCSC Ensembl
Innerchr2:235564098..235615023hg18UCSC Ensembl
Innerchr2:235681359..235732284hg17UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3850926
hg1950926
hg1850926
hg1750926
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460140
Supporting Variants
SamplesNINDS_54
Known GenesSH3BP4
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)nssv536749
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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