A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469019



Internal ID21126572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57790001..57798900hg38UCSC Ensembl
chr12:58183784..58192683hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388900
hg198900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001975
Samples
Known GenesAVIL, TSFM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469019
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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