A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347757



Internal ID21005310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216350450..216360121hg38UCSC Ensembl
chr2:217215173..217224844hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg389672
hg199672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085770
Samples
Known GenesMARCH4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347757
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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