A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462021



Internal ID15175400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:26540207..28477865hg38UCSC Ensembl
Innerchr5:26540316..28477972hg19UCSC Ensembl
Innerchr5:26576073..28513729hg18UCSC Ensembl
Innerchr5:26576073..28513729hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg381937659
hg191937657
hg181937657
hg171937657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538314
SamplesHGDP01255
Known GenesCDH9, LINC01021
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)nsv462021
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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