A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200929



Internal ID20767969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15678201..15912600hg38UCSC Ensembl
chr1:16004696..16239095hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38234400
hg19234400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331016
Supporting Variants
Samples
Known GenesFBLIM1, FLJ37453, PLEKHM2, SLC25A34, SPEN, TMEM82, UQCRHL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200929
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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