A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623672



Internal ID15822245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33727780..33765116hg38UCSC Ensembl
Outerchr15:34019981..34057317hg19UCSC Ensembl
Outerchr15:31807273..31844609hg18UCSC Ensembl
Outerchr15:31807273..31844609hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg385286
hg195286
hg185286
hg175286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509566
Supporting Variants
SamplesNA18994
Known GenesRYR3
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv623672
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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