A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008051



Internal ID18750582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43560418..43613702hg38UCSC Ensembl
Innerchr1:44026089..44079373hg19UCSC Ensembl
Innerchr1:43798676..43851960hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3853285
hg1953285
hg1853285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158n100
Supporting Variantsnssv3466505, nssv3474146
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)nsv1008051
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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