A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181911



Internal ID20748951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57916715..57944100hg38UCSC Ensembl
chr12:58310498..58337883hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3827386
hg1927386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458291
Supporting Variants
Samples
Known GenesLOC100506844, XRCC6BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181911
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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