A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623605



Internal ID15475492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:30323851..30378051hg38UCSC Ensembl
Outerchr10:30612780..30666980hg19UCSC Ensembl
Outerchr10:30652786..30706986hg18UCSC Ensembl
Outerchr10:30652786..30706986hg17UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg383050
hg193050
hg183050
hg173050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509349
Supporting Variants
SamplesNA18994
Known GenesMIR7162, MTPAP
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)nssv623605
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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