A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076542



Internal ID21448290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103757004..103757004hg38UCSC Ensembl
chr12:104150782..104150782hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5653009
Supporting Variants
SamplesHG00864
Known GenesSTAB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076542
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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