A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077670



Internal ID21482966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122894032..122894153hg38UCSC Ensembl
chr12:123378579..123378700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5590335
Supporting Variants
SamplesHG03732
Known GenesVPS37B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077670
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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