A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5639177



Internal ID21587482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48443861..48443861hg38UCSC Ensembl
chr7:48483458..48483458hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17143426, nssv17148878
SamplesNA19238, HG00732
Known GenesABCA13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5639177
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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