A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411003



Internal ID190318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11575234..11575285hg38UCSC Ensembl
chr7:11614861..11614912hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992674
Samples
Known GenesTHSD7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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