A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320995



Internal ID20854097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45676993..45753417hg38UCSC Ensembl
chr1:46142665..46219089hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3876425
hg1976425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201364
Samples
Known GenesGPBP1L1, IPP, TMEM69
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320995
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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