A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538731



Internal ID15158596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3152171..3204587hg38UCSC Ensembl
Innerchr6:3152405..3204821hg19UCSC Ensembl
Innerchr6:3097404..3149820hg18UCSC Ensembl
Innerchr6:3097404..3149820hg17UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3852417
hg1952417
hg1852417
hg1752417
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462614
Supporting Variants
SamplesHGDP00094
Known GenesBPHL, LOC100507194, TUBB2A
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)nssv538731
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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