A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342239



Internal ID20999792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180215426..180220416hg38UCSC Ensembl
chr2:181080153..181085143hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg384991
hg194991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080039
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342239
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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