A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540003



Internal ID15507596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:102992625..103769899hg38UCSC Ensembl
Innerchr6:103440500..104217774hg19UCSC Ensembl
Innerchr6:103547193..104324467hg18UCSC Ensembl
Innerchr6:103547193..104324467hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38777275
hg19777275
hg18777275
hg17777275
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464000
Supporting Variants
SamplesHGDP00683
Known Genes
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)nssv540003
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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