A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462671



Internal ID15522736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29599065..29620369hg38UCSC Ensembl
Innerchr6:29566842..29588146hg19UCSC Ensembl
Innerchr6:29674821..29696125hg18UCSC Ensembl
Innerchr6:29674821..29696125hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3821305
hg1921305
hg1821305
hg1721305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538768
SamplesNINDS_65
Known GenesGABBR1
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)nsv462671
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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