A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464063



Internal ID15177442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134914396..135161428hg38UCSC Ensembl
Innerchr6:135235534..135482566hg19UCSC Ensembl
Innerchr6:135277227..135524259hg18UCSC Ensembl
Innerchr6:135277227..135524259hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38247033
hg19247033
hg18247033
hg17247033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540052
SamplesHGDP00181
Known GenesALDH8A1, HBS1L, MIR3662
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)nsv464063
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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