A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533750



Internal ID15512773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100527708..100617621hg38UCSC Ensembl
Innerchr14:100994045..101083958hg19UCSC Ensembl
Innerchr14:100063798..100153711hg18UCSC Ensembl
Innerchr14:100063798..100153711hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3889914
hg1989914
hg1889914
hg1789914
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456427
Supporting Variants
SamplesNINDS_61
Known GenesBEGAIN, WDR25
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)nssv533750
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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