A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316530



Internal ID20849610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45617230..45634837hg38UCSC Ensembl
chr1:46082902..46100509hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3817608
hg1917608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201359
Samples
Known GenesCCDC17, GPBP1L1, NASP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316530
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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