A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061139



Internal ID18803670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48234192..48282403hg38UCSC Ensembl
Innerchr19:48737449..48785660hg19UCSC Ensembl
Innerchr19:53429261..53477472hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3848212
hg1948212
hg1848212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3614n100
Supporting Variantsnssv3574949
Samples
Known GenesCARD8, LOC100505812, ZNF114
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061139
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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