A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456430



Internal ID15516495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101184215..101213659hg38UCSC Ensembl
Innerchr14:101650552..101679996hg19UCSC Ensembl
Innerchr14:100720305..100749749hg18UCSC Ensembl
Innerchr14:100720305..100749749hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3829445
hg1929445
hg1829445
hg1729445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533753
Samples1780862094_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)nsv456430
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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