A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055803



Internal ID105035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9288650..9294650hg38UCSC Ensembl
chr12:9441246..9447246hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143596
Supporting Variants
Samples
Known GenesLOC642846
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.031626


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