A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005270



Internal ID18747801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234254426..234477368hg38UCSC Ensembl
Innerchr1:234390172..234613114hg19UCSC Ensembl
Innerchr1:232456795..232679737hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38222943
hg19222943
hg18222943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv585n100
Supporting Variantsnssv3492718, nssv3494556
Samples
Known GenesCOA6, MIR4671, SLC35F3, TARBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005270
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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