A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178654



Internal ID21317450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101468991..101469041hg38UCSC Ensembl
chr2:102085453..102085503hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934119
Supporting Variants
SamplesHG002
Known GenesRFX8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178654
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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