A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111864



Internal ID21460361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233116248..233116248hg38UCSC Ensembl
chr2:233980958..233980958hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615259
Supporting Variants
SamplesHG02818
Known GenesINPP5D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111864
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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