A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124001



Internal ID21497049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6036923..6036923hg38UCSC Ensembl
chr4:6038650..6038650hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615095
Supporting Variants
SamplesNA19238
Known GenesJAKMIP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124001
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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