A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330164



Internal ID20863319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45637122..45936899hg38UCSC Ensembl
chr1:46102794..46402571hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38299778
hg19299778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv178n223
Supporting Variantsnssv18201361
Samples
Known GenesGPBP1L1, IPP, MAST2, RPS15AP10, TMEM69
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330164
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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