A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530882



Internal ID20904243
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 StatusM
Merged Variants
Supporting Variantsnssv18195758
Samples
Known GenesAPPBP2, C17orf64, USP32
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530882
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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