A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004888



Internal ID18747419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43525952..43606749hg38UCSC Ensembl
Innerchr1:43991623..44072420hg19UCSC Ensembl
Innerchr1:43764210..43845007hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3880798
hg1980798
hg1880798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv157n100
Supporting Variantsnssv3471484
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)nsv1004888
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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