A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18168272



Internal ID20735312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51883137..51890894hg38UCSC Ensembl
chr8:52795697..52803454hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg387758
hg197758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426079
Supporting Variants
Samples
Known GenesPCMTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18168272
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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