A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347819



Internal ID21005372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135095318..135109760hg38UCSC Ensembl
chr2:135852888..135867330hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3814443
hg1914443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077651
Samples
Known GenesRAB3GAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347819
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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