A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533726



Internal ID15162597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91297293..91330777hg38UCSC Ensembl
Innerchr14:91763637..91797121hg19UCSC Ensembl
Innerchr14:90833390..90866874hg18UCSC Ensembl
Innerchr14:90833390..90866874hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3833485
hg1933485
hg1833485
hg1733485
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456394
Supporting Variants
SamplesHGDP00970
Known GenesCCDC88C
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)nssv533726
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer