A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339504



Internal ID20997057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205102809..205213165hg38UCSC Ensembl
chr2:205967533..206077889hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38110357
hg19110357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082324
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339504
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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