A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448204



Internal ID22506074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72246261..72246261hg38UCSC Ensembl
chr8:73158496..73158496hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948630
Supporting Variants
Samples
Known GenesLOC392232
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448204
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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