A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516890



Internal ID15097497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47373953..47378251hg38UCSC Ensembl
Innerchr19:47877210..47881508hg19UCSC Ensembl
Innerchr19:52569010..52573346hg18UCSC Ensembl
Innerchr19:52569010..52573346hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384299
hg194299
hg184337
hg174337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677946, nssv661635, nssv654727, nssv697775, nssv686223
Samples
Known GenesDHX34
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516890
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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