A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020494



Internal ID18763029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96188447..96286981hg38UCSC Ensembl
Innerchr8:97200675..97299209hg19UCSC Ensembl
Innerchr8:97269851..97368385hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3898535
hg1998535
hg1898535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689737
Samples
Known GenesMTERFD1, PTDSS1, UQCRB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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