A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18153603



Internal ID20720643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117608395..117612046hg38UCSC Ensembl
chr7:117248449..117252100hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg383652
hg193652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607126
Supporting Variants
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18153603
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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