A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055718



Internal ID19144937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53530432..53678792hg38UCSC Ensembl
Innerchr19:54033686..54182046hg19UCSC Ensembl
Innerchr19:58725498..58873858hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38148361
hg19148361
hg18148361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573301
Samples
Known GenesDPRX, LOC284379, MIR1323, MIR498, MIR512-1, MIR512-2, MIR520E, ZNF331
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055718
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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