A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138830



Internal ID21469976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126966470..126966470hg38UCSC Ensembl
chr5:126302162..126302162hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5631924
Supporting Variants
SamplesHG03125
Known GenesMARCH3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138830
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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