A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520852



Internal ID15448145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43380933..43455962hg38UCSC Ensembl
Innerchr19:43885085..43960114hg19UCSC Ensembl
Innerchr19:48576925..48651954hg18UCSC Ensembl
Innerchr19:48576925..48651954hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3875030
hg1975030
hg1875030
hg1775030
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684803, nssv676380, nssv686356, nssv698358
Samples
Known GenesTEX101
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520852
Frequency
Sample Size2026
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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