A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001814



Internal ID18744345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58158881..58354197hg38UCSC Ensembl
Innerchr3:58144608..58339924hg19UCSC Ensembl
Innerchr3:58119648..58314964hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38195317
hg19195317
hg18195317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593388
Samples
Known GenesABHD6, DNASE1L3, FLNB, PXK, RPP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001814
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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