A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995813



Internal ID64644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48633382..48633459hg38UCSC Ensembl
chr7:48672978..48673055hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483343
Supporting Variants
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995813
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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