A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345928



Internal ID21003481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171999601..172000100hg38UCSC Ensembl
chr2:172864508..172865007hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080402
Samples
Known GenesMETAP1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345928
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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