A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004621



Internal ID70714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147676726..147676777hg38UCSC Ensembl
chr7:147373818..147373869hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395281
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004621
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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