A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533748



Internal ID15161067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99549708..99559838hg38UCSC Ensembl
Innerchr14:100016045..100026175hg19UCSC Ensembl
Innerchr14:99085798..99095928hg18UCSC Ensembl
Innerchr14:99085798..99095928hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3810131
hg1910131
hg1810131
hg1710131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456423
Supporting Variants
SamplesHGDP00708
Known GenesCCDC85C
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)nssv533748
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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