A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472710



Internal ID21130263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102865713..102871065hg38UCSC Ensembl
chr12:103259491..103264843hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg385353
hg195353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995608
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472710
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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