A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6607126



Internal ID20980197
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 StatusM
Merged Variants
Supporting Variantsnssv18153603
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6607126
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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