A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025781



Internal ID19114998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:66175344..66253760hg38UCSC Ensembl
Innerchr5:65471172..65549588hg19UCSC Ensembl
Innerchr5:65506928..65585344hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3878417
hg1978417
hg1878417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640792
Samples
Known GenesSREK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025781
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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