A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500826



Internal ID20874055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7924254..7955483hg38UCSC Ensembl
chr17:7827572..7858801hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3831230
hg1931230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186488
Samples
Known GenesCNTROB, KCNAB3, TRAPPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500826
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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