A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538764



Internal ID15162184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:25084490..25165258hg38UCSC Ensembl
Innerchr6:25084718..25165486hg19UCSC Ensembl
Innerchr6:25192697..25273465hg18UCSC Ensembl
Innerchr6:25192697..25273465hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3880769
hg1980769
hg1880769
hg1780769
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462662
Supporting Variants
SamplesHGDP00910
Known GenesCMAHP
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)nssv538764
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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