A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323660



Internal ID20856780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220156158..220158648hg38UCSC Ensembl
chr1:220329500..220331990hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382491
hg192491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202053
Samples
Known GenesRAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323660
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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