A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454206



Internal ID22512082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98492642..98496201hg38UCSC Ensembl
chr12:98886420..98889979hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852379
Supporting Variants
Samples
Known GenesLOC643770
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454206
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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