A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540103



Internal ID15505401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:164709839..164795109hg38UCSC Ensembl
Innerchr6:165130872..165208598hg19UCSC Ensembl
Innerchr6:165050862..165128588hg18UCSC Ensembl
Innerchr6:165101283..165179009hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3885271
hg1977727
hg1877727
hg1777727
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464130
Supporting Variants
SamplesHGDP00125
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)nssv540103
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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