A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005843



Internal ID18748374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43525952..43598363hg38UCSC Ensembl
Innerchr1:43991623..44064034hg19UCSC Ensembl
Innerchr1:43764210..43836621hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3872412
hg1972412
hg1872412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv157n100
Supporting Variantsnssv3481819
Samples
Known GenesPTPRF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005843
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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