A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462629



Internal ID15522694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:9003005..9140425hg38UCSC Ensembl
Innerchr6:9003238..9140658hg19UCSC Ensembl
Innerchr6:8948237..9085657hg18UCSC Ensembl
Innerchr6:8948237..9085657hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38137421
hg19137421
hg18137421
hg17137421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538740
SamplesHGDP00598
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)nsv462629
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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