A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473496



Internal ID21131049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11154397..11166313hg38UCSC Ensembl
chr12:11306996..11318912hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3811917
hg1911917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996975
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473496
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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