A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499592



Internal ID276558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1387775..1884405hg38UCSC Ensembl
chr11:1409005..1905635hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38496631
hg19496631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042058
Samples
Known GenesBRSK2, CTSD, DUSP8, FAM99A, FAM99B, IFITM10, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LSP1, MIR4298, MOB2, SYT8, TNNI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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