A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17570692



Internal ID21762735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30066142..30069641hg38UCSC Ensembl
chr8:29923658..29927157hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6004255
Supporting Variants
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17570692
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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