A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18070329



Internal ID20637369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6767001..6768300hg38UCSC Ensembl
chr20:6747648..6748947hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6530883
Supporting Variants
Samples
Known GenesBMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18070329
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.06412


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