A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934145



Internal ID22709466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67858836..68215833hg38UCSC Ensembl
chr17:65854952..66211974hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38356998
hg19357023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376973
Samples
Known GenesBPTF, C17orf58, KPNA2, LINC00674, LOC440461
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934145
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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