A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008114



Internal ID18750645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16685271hg38UCSC Ensembl
Innerchr1:16909597..17011766hg19UCSC Ensembl
Innerchr1:16782184..16884353hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38102170
hg19102170
hg18102170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n100
Supporting Variantsnssv3476347
Samples
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008114
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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