A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498772



Internal ID20871985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30467915..30594799hg38UCSC Ensembl
chr17:28794933..28921817hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38126885
hg19126885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194932
Samples
Known GenesCPD, GOSR1, LRRC37BP1, TBC1D29
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498772
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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