A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534983



Internal ID15163662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3145797..3188066hg38UCSC Ensembl
Innerchr1:3062361..3104630hg19UCSC Ensembl
Innerchr1:3052221..3094490hg18UCSC Ensembl
Innerchr1:3085518..3127787hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3842270
hg1942270
hg1842270
hg1742270
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457884
Supporting Variants
SamplesHGDP01234
Known GenesPRDM16
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)nssv534983
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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