A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340148



Internal ID20997701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189128201..189144000hg38UCSC Ensembl
chr2:189992927..190008726hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3815800
hg1915800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083493
Samples
Known GenesCOL5A2, MIR3129
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340148
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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