A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014128



Internal ID18756661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45631998..45928868hg38UCSC Ensembl
Innerchr1:46097670..46394540hg19UCSC Ensembl
Innerchr1:45870257..46167127hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38296871
hg19296871
hg18296871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3476542
Samples
Known GenesGPBP1L1, IPP, MAST2, RPS15AP10, TMEM69
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014128
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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