A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046526



Internal ID18789057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31641331..32098220hg38UCSC Ensembl
Innerchr14:32110537..32567426hg19UCSC Ensembl
Innerchr14:31180288..31637177hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38456890
hg19456890
hg18456890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528588
Samples
Known GenesARHGAP5, ARHGAP5-AS1, NUBPL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046526
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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