A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026914



Internal ID18769445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14237673..14751479hg38UCSC Ensembl
Innerchr5:14237782..14751588hg19UCSC Ensembl
Innerchr5:14290782..14804588hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38513807
hg19513807
hg18513807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638299
Samples
Known GenesANKH, FAM105A, FAM105B, LOC100130744, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026914
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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