A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347004



Internal ID21004557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69772911..69778755hg38UCSC Ensembl
chr2:70000043..70005887hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385845
hg195845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206986
Samples
Known GenesANXA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347004
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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