A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345592



Internal ID21003145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133478566..133805904hg38UCSC Ensembl
chr2:134236137..134563475hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38327339
hg19327339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077547
Samples
Known GenesNCKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345592
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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