A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533660



Internal ID15156810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51803013..51867871hg38UCSC Ensembl
Innerchr14:52269731..52334589hg19UCSC Ensembl
Innerchr14:51339481..51404339hg18UCSC Ensembl
Innerchr14:51339481..51404339hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3864859
hg1964859
hg1864859
hg1764859
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456317
Supporting Variants
Samples1780862304_A
Known GenesGNG2
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)nssv533660
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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