A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517364



Internal ID15097971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48243424..48267310hg38UCSC Ensembl
Innerchr19:48746681..48770567hg19UCSC Ensembl
Innerchr19:53438493..53462379hg18UCSC Ensembl
Innerchr19:53438493..53462379hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3823887
hg1923887
hg1823887
hg1723887
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675700, nssv697563, nssv697501, nssv657240, nssv669244, nssv668510, nssv670651, nssv673400, nssv684357, nssv655116, nssv680146, nssv665391, nssv693338, nssv660833, nssv651819, nssv665779, nssv668728, nssv694547, nssv685163, nssv676860, nssv674165, nssv681332, nssv663283, nssv697950
Samples
Known GenesCARD8, LOC100505812
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517364
Frequency
Sample Size2026
Observed Gain21
Observed Loss3
Observed Complex0
Frequencyn/a


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