A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3570431



Internal ID18522026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55655735..55705993hg38UCSC Ensembl
Innerchr19:56167101..56217359hg19UCSC Ensembl
Innerchr19:60858913..60909171hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3850259
hg1950259
hg1850259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061024
Supporting Variants
Samples
Known GenesEPN1, U2AF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3570431
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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