A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178311



Internal ID21317107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105054586..105054694hg38UCSC Ensembl
chr2:105671044..105671152hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939752
Supporting Variants
SamplesHG002
Known GenesMRPS9
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178311
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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