A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337830



Internal ID20995383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235030246..235034441hg38UCSC Ensembl
chr2:235938890..235943085hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg384196
hg194196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087383
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337830
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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