A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530228



Internal ID20903589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64397624..65005750hg38UCSC Ensembl
chr17:62460761..63001868hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38608127
hg19541108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18037769
Samples
Known GenesAMZ2P1, CEP95, DDX5, LOC146880, LRRC37A3, MILR1, MIR3064, MIR4315-1, MIR4315-2, MIR5047, MIR6080, PLEKHM1P, POLG2, SMURF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530228
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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