A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058442



Internal ID18800973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48027437..48037765hg38UCSC Ensembl
Innerchr19:48530694..48541022hg19UCSC Ensembl
Innerchr19:53222506..53232834hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3810329
hg1910329
hg1810329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3612n100
Supporting Variantsnssv3574937
Samples
Known GenesCABP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058442
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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