A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621009



Internal ID15473673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:34345031..34396055hg38UCSC Ensembl
Outerchr15:34637232..34688256hg19UCSC Ensembl
Outerchr15:32424524..32475548hg18UCSC Ensembl
Outerchr15:32424524..32475548hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg385177
hg195177
hg185177
hg175177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509567
Supporting Variants
SamplesNA15510
Known GenesGOLGA8A, LPCAT4, MIR1233-1, MIR1233-2, NUTM1
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)nssv621009
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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