A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17157845



Internal ID21465380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46836248..46836248hg38UCSC Ensembl
chr6:46803985..46803985hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634450
Supporting Variants
SamplesHG03065
Known GenesMEP1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17157845
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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