A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195758



Internal ID20762798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60294091..60520792hg38UCSC Ensembl
chr17:58371452..58598153hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38226702
hg19226702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6530882
Supporting Variants
Samples
Known GenesAPPBP2, C17orf64, USP32
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195758
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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