A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315698



Internal ID20848770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45656206..45861103hg38UCSC Ensembl
chr1:46121878..46326775hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38204898
hg19204898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201362
Samples
Known GenesGPBP1L1, IPP, MAST2, TMEM69
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315698
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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