A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004081



Internal ID70355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108032327..108032502hg38UCSC Ensembl
chr7:107672772..107672947hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477044
Supporting Variants
Samples
Known GenesLAMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004081
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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