A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200411



Internal ID20767451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151204342..151206864hg38UCSC Ensembl
chr1:151176818..151179340hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382523
hg192523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326556
Supporting Variants
Samples
Known GenesPIP5K1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200411
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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