A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537719



Internal ID15506105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:26843052..27076754hg38UCSC Ensembl
Innerchr4:26844674..27078376hg19UCSC Ensembl
Innerchr4:26453772..26687474hg18UCSC Ensembl
Innerchr4:26520943..26754645hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38233703
hg19233703
hg18233703
hg17233703
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461312
Supporting Variants
SamplesHGDP00376
Known GenesSTIM2
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)nssv537719
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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