A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593388



Internal ID18544983
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 StatusS
Merged Variantsnsv1001814
Supporting Variants
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)nssv3593388
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer