A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464023



Internal ID15524088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:113750518..113792854hg38UCSC Ensembl
Innerchr6:114071720..114114057hg19UCSC Ensembl
Innerchr6:114178413..114220750hg18UCSC Ensembl
Innerchr6:114178413..114220750hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3842337
hg1942338
hg1842338
hg1742338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540025
Samples1780862373_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)nsv464023
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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