A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540151



Internal ID15510755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168790044..168965547hg38UCSC Ensembl
Innerchr6:169190139..169365642hg19UCSC Ensembl
Innerchr6:168932064..169107567hg18UCSC Ensembl
Innerchr6:169007771..169183274hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38175504
hg19175504
hg18175504
hg17175504
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464205
Supporting Variants
SamplesHGDP01294
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)nssv540151
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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