A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619537



Internal ID15471432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141306491..141442114hg38UCSC Ensembl
Outerchr8:142316590..142452214hg19UCSC Ensembl
Outerchr8:142385772..142521396hg18UCSC Ensembl
Outerchr8:142385772..142521396hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3815024
hg1915024
hg1815024
hg1715024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509285
Supporting Variants
SamplesNA10860
Known GenesGPR20, LOC731779, MROH5, PTP4A3
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)nssv619537
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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