A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458128



Internal ID21115681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82712587..82766195hg38UCSC Ensembl
chr12:83106366..83159974hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3853609
hg1953609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18004704
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458128
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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