A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540124



Internal ID15502486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168180014hg38UCSC Ensembl
Innerchr6:168336080..168580694hg19UCSC Ensembl
Innerchr6:168078929..168323543hg18UCSC Ensembl
Innerchr6:168154636..168399250hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38244615
hg19244615
hg18244615
hg17244615
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464154
Supporting Variants
Samples1780854417_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)nssv540124
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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