A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025896



Internal ID18768428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60894767..60959177hg38UCSC Ensembl
Innerchr5:60190594..60255004hg19UCSC Ensembl
Innerchr5:60226351..60290761hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3864411
hg1964411
hg1864411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3747225
Samples
Known GenesERCC8, NDUFAF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025896
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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