A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342811



Internal ID21000364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202665718..202669540hg38UCSC Ensembl
chr2:203530441..203534263hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg383823
hg193823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084345
Samples
Known GenesFAM117B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342811
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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