A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456195



Internal ID15516260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29865761..29933556hg38UCSC Ensembl
Innerchr14:30334967..30402762hg19UCSC Ensembl
Innerchr14:29404718..29472513hg18UCSC Ensembl
Innerchr14:29404718..29472513hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3867796
hg1967796
hg1867796
hg1767796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533565
SamplesNINDS_123
Known GenesPRKD1
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)nsv456195
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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