A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343779



Internal ID21001332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61277905..61516601hg38UCSC Ensembl
chr2:61505040..61743736hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38238697
hg19238697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206368
Samples
Known GenesSNORA70B, USP34, XPO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343779
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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