A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516199



Internal ID15096806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55342945..55389731hg38UCSC Ensembl
Innerchr19:55854313..55901099hg19UCSC Ensembl
Innerchr19:60546125..60592911hg18UCSC Ensembl
Innerchr19:60546125..60592911hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3846787
hg1946787
hg1846787
hg1746787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694980, nssv669275, nssv668103, nssv677657, nssv697438, nssv682326, nssv666755, nssv682959, nssv684598
Samples
Known GenesCOX6B2, FAM71E2, IL11, MIR6805, RPL28, SUV420H2, TMEM190, TMEM238
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516199
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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