A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077206



Internal ID21415538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112297116..112297116hg38UCSC Ensembl
chr12:112734920..112734920hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650083
Supporting Variants
SamplesHG00731
Known GenesHECTD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077206
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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