A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062920



Internal ID18805451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48238370..48320001hg38UCSC Ensembl
Innerchr19:48741627..48823258hg19UCSC Ensembl
Innerchr19:53433439..53515070hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3881632
hg1981632
hg1881632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3616n100
Supporting Variantsnssv3574954, nssv3574956, nssv3574955
Samples
Known GenesCARD8, CCDC114, 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)nsv1062920
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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