A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511752



Internal ID20885082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5366601..5367500hg38UCSC Ensembl
chr17:5269896..5270795hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036643
Samples
Known GenesRABEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511752
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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