A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475315



Internal ID21132868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100124100..100158010hg38UCSC Ensembl
chr12:100517878..100551788hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3833911
hg1933911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996641
Samples
Known GenesGOLGA2P5, UHRF1BP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475315
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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