A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998258



Internal ID66385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71480689..71489135hg38UCSC Ensembl
chr7:70945674..70954120hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg388447
hg198447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142736
Supporting Variants
Samples
Known GenesWBSCR17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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