A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000178



Internal ID18742709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76131893..76191927hg38UCSC Ensembl
Innerchr4:77053046..77113080hg19UCSC Ensembl
Innerchr4:77272070..77332104hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3860035
hg1960035
hg1860035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3742872
Samples
Known GenesNUP54, SCARB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000178
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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