A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533753



Internal ID15503164
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456430
Supporting Variants
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)nssv533753
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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