A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462943



Internal ID15523008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49351360..49409211hg38UCSC Ensembl
Innerchr6:49319025..49376924hg19UCSC Ensembl
Innerchr6:49426984..49484883hg18UCSC Ensembl
Innerchr6:49426984..49484883hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3857852
hg1957900
hg1857900
hg1757900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538996
Samples1798860114_A
Known Genes
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)nsv462943
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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