A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469004



Internal ID21126557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51729401..51735800hg38UCSC Ensembl
chr12:52123185..52129584hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001366
Samples
Known GenesSCN8A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469004
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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