A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540077



Internal ID15506136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162054402..162109038hg38UCSC Ensembl
Innerchr6:162475434..162530070hg19UCSC Ensembl
Innerchr6:162395424..162450060hg18UCSC Ensembl
Innerchr6:162445845..162500481hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3854637
hg1954637
hg1854637
hg1754637
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464090
Supporting Variants
SamplesHGDP00402
Known GenesPARK2
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)nssv540077
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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