A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540121



Internal ID15507490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168196872hg38UCSC Ensembl
Innerchr6:168335278..168597552hg19UCSC Ensembl
Innerchr6:168078127..168340401hg18UCSC Ensembl
Innerchr6:168153834..168416108hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38262275
hg19262275
hg18262275
hg17262275
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464151
Supporting Variants
SamplesHGDP00669
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)nssv540121
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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