A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005653



Internal ID18748184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43559459..43606749hg38UCSC Ensembl
Innerchr1:44025130..44072420hg19UCSC Ensembl
Innerchr1:43797717..43845007hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3847291
hg1947291
hg1847291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158n100
Supporting Variantsnssv3473889
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)nsv1005653
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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