A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343740



Internal ID21001293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234952491..234954356hg38UCSC Ensembl
chr2:235861135..235863000hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381866
hg191866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087377
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343740
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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