A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17094142



Internal ID21458190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:381326..381326hg38UCSC Ensembl
chr12:490492..490492hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647590
Supporting Variants
SamplesHG02587
Known GenesKDM5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17094142
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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