A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000034



Internal ID18742565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145827134hg38UCSC Ensembl
Innerchr1:145607979..145747463hg19UCSC Ensembl
Innerchr1:144319336..144458820hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38139533
hg19139485
hg18139485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv331n100
Supporting Variantsnssv3482858
Samples
Known GenesCD160, LOC100288142, NBPF10, PDZK1, POLR3C, RNF115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000034
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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