A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011032



Internal ID19100249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53157032..53205917hg38UCSC Ensembl
Innerchr2:53384170..53433055hg19UCSC Ensembl
Innerchr2:53237674..53286559hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3848886
hg1948886
hg1848886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576619
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011032
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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