A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504659



Internal ID20877922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88770801..88862200hg38UCSC Ensembl
chr16:88837209..88928608hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3891400
hg1991400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18033230
Samples
Known GenesAPRT, CDT1, GALNS, PIEZO1, TRAPPC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504659
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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