A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716128



Internal ID139794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7107790..7113948hg38UCSC Ensembl
chr18:7107789..7113947hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg386159
hg196159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144895
Supporting Variants
Samples
Known GenesLAMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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