A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368099



Internal ID22593768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98878014..98879696hg38UCSC Ensembl
chr12:99271792..99273474hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936394
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368099
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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