A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516922



Internal ID15097529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32844072..32883216hg38UCSC Ensembl
Innerchr19:33334978..33374122hg19UCSC Ensembl
Innerchr19:38026818..38065962hg18UCSC Ensembl
Innerchr19:38026818..38065962hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3839145
hg1939145
hg1839145
hg1739145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695894, nssv703093, nssv657044, nssv654998
Samples
Known GenesCEP89, SLC7A9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516922
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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