A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006346



Internal ID18748877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110477152..110600523hg38UCSC Ensembl
Innerchr1:111019774..111143145hg19UCSC Ensembl
Innerchr1:110821297..110944668hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38123372
hg19123372
hg18123372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3702409, nssv3702410
Samples
Known GenesCYMP, KCNA10, KCNA2, LOC440602
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006346
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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