A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499302



Internal ID20872521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36587794..36715996hg38UCSC Ensembl
chr17:34944224..35072312hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38128203
hg19128089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182801
Samples
Known GenesDHRS11, GGNBP2, MRM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499302
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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