A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420547



Internal ID21078100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17296701..17298500hg38UCSC Ensembl
chr8:17154210..17156009hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18166301
Samples
Known GenesMTMR7, VPS37A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6420547
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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