A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538963



Internal ID15510228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34448611..34525235hg38UCSC Ensembl
Innerchr6:34416388..34493012hg19UCSC Ensembl
Innerchr6:34524366..34600990hg18UCSC Ensembl
Innerchr6:34524366..34600990hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3876625
hg1976625
hg1876625
hg1776625
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462904
Supporting Variants
SamplesHGDP01211
Known GenesPACSIN1
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)nssv538963
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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