A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464185



Internal ID15524250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168196562hg38UCSC Ensembl
Innerchr6:168336080..168597242hg19UCSC Ensembl
Innerchr6:168078929..168340091hg18UCSC Ensembl
Innerchr6:168154636..168415798hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38261163
hg19261163
hg18261163
hg17261163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv791n27
Supporting Variantsnssv540138
Samples1780862557_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)nsv464185
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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