A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344217



Internal ID21001770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178011693..178012055hg38UCSC Ensembl
chr2:178876420..178876782hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082720
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344217
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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