A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540133



Internal ID15504908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168195571hg38UCSC Ensembl
Innerchr6:168336080..168596251hg19UCSC Ensembl
Innerchr6:168078929..168339100hg18UCSC Ensembl
Innerchr6:168154636..168414807hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38260172
hg19260172
hg18260172
hg17260172
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464180
Supporting Variants
Samples1798860592_A
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)nssv540133
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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