A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346276



Internal ID21003829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49020101..49204200hg38UCSC Ensembl
chr2:49247240..49431339hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38184100
hg19184100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086074
Samples
Known GenesFSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346276
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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