A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193502



Internal ID21332391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003042..55003042hg38UCSC Ensembl
chr1:55468715..55468715hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953937
Supporting Variants
SamplesHG002
Known GenesBSND
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193502
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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