A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994033



Internal ID63472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31251684..31251684hg38UCSC Ensembl
chr7:31291298..31291298hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561359
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994033
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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