A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186488



Internal ID20753528
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 StatusS
Merged Variantsnsv6500826
Supporting Variants
Samples
Known GenesCNTROB, KCNAB3, TRAPPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186488
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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