A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533678



Internal ID15165399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72603947..72656563hg38UCSC Ensembl
Innerchr14:73070655..73123271hg19UCSC Ensembl
Innerchr14:72140408..72193024hg18UCSC Ensembl
Innerchr14:72140408..72193024hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3852617
hg1952617
hg1852617
hg1752617
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456338
Supporting Variants
SamplesNINDS_198
Known GenesDPF3
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)nssv533678
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