A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530083



Internal ID20903444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48150363..48150708hg38UCSC Ensembl
chr17:46227725..46228070hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036042
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530083
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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