A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200330



Internal ID20767370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103564201..103565700hg38UCSC Ensembl
chr1:104106823..104108322hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315591
Supporting Variants
Samples
Known GenesAMY2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200330
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.05398


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