A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361176



Internal ID22586845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50505001..50505001hg38UCSC Ensembl
chr12:50898784..50898784hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974075
Supporting Variants
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361176
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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