A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537201



Internal ID15162085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17086006..17159056hg38UCSC Ensembl
Innerchr1:17412501..17485551hg19UCSC Ensembl
Innerchr1:17285088..17358138hg18UCSC Ensembl
Innerchr1:17157807..17230857hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3873051
hg1973051
hg1873051
hg1773051
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460662
Supporting Variants
SamplesHGDP00896
Known GenesPADI2
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)nssv537201
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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