A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486558



Internal ID21144111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123761801..123762500hg38UCSC Ensembl
chr12:124246348..124247047hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998820
Samples
Known GenesDNAH10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486558
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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