A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345601



Internal ID21003154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8932486..8939713hg38UCSC Ensembl
chr2:9072615..9079842hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387228
hg197228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18091876
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345601
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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