A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227652



Internal ID20794692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7964201..7969200hg38UCSC Ensembl
chr7:8003832..8008831hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6614908
Supporting Variants
Samples
Known GenesGLCCI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227652
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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