A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468094



Internal ID15181473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214481622..214514382hg38UCSC Ensembl
Innerchr1:214654965..214687725hg19UCSC Ensembl
Innerchr1:212721588..212754348hg18UCSC Ensembl
Innerchr1:211043360..211076120hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3832761
hg1932761
hg1832761
hg1732761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543227
SamplesHGDP00807
Known GenesPTPN14
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)nsv468094
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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