A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190328



Internal ID20757368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104975701..104987300hg38UCSC Ensembl
chr12:105369479..105381078hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811600
hg1911600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469375
Supporting Variants
Samples
Known GenesC12orf45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190328
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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