A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463135



Internal ID15523200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:66658257..66739071hg38UCSC Ensembl
Innerchr6:67368150..67448964hg19UCSC Ensembl
Innerchr6:67424871..67505685hg18UCSC Ensembl
Innerchr6:67424871..67505685hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3880815
hg1980815
hg1880815
hg1780815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539165
SamplesNINDS_73
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)nsv463135
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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