A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342511



Internal ID21000064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178885500..178886208hg38UCSC Ensembl
chr2:179750227..179750935hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082765
Samples
Known GenesCCDC141
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342511
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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