A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539996



Internal ID15504326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:100611010..100675627hg38UCSC Ensembl
Innerchr6:101058886..101123503hg19UCSC Ensembl
Innerchr6:101165607..101230224hg18UCSC Ensembl
Innerchr6:101165607..101230224hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3864618
hg1964618
hg1864618
hg1764618
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463990
Supporting Variants
Samples1782681096_A
Known GenesASCC3
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)nssv539996
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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