A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202774



Internal ID21341578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45904647..45904647hg38UCSC Ensembl
chr6:45872384..45872384hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3938420
Supporting Variants
SamplesHG002
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202774
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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