A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540004



Internal ID15509305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:103067344..103214546hg38UCSC Ensembl
Innerchr6:103515219..103662421hg19UCSC Ensembl
Innerchr6:103621912..103769114hg18UCSC Ensembl
Innerchr6:103621912..103769114hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38147203
hg19147203
hg18147203
hg17147203
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464001
Supporting Variants
SamplesHGDP00972
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)nssv540004
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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