A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076760



Internal ID21498112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108850259..108850259hg38UCSC Ensembl
chr12:109244035..109244035hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659145
Supporting Variants
SamplesNA19238
Known GenesSSH1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076760
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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