A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456277



Internal ID21113830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24125992..24126528hg38UCSC Ensembl
chr12:24278926..24279462hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999760
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456277
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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