A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903075



Internal ID2868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57177919..57181294hg38UCSC Ensembl
chr1:57643592..57646967hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383376
hg193376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420001
Supporting Variants
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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