A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143426



Internal ID21496445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48443861..48443861hg38UCSC Ensembl
chr7:48483458..48483458hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5639177
Supporting Variants
SamplesNA19238
Known GenesABCA13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143426
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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