A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3745743



Internal ID18697338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14385055..15126994hg38UCSC Ensembl
Innerchr5:14385164..15127103hg19UCSC Ensembl
Innerchr5:14438164..15180103hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38741940
hg19741940
hg18741940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018187
Supporting Variants
Samples
Known GenesANKH, FAM105A, FAM105B, LOC100130744, MIR4637, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3745743
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