A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509364



Internal ID15476862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97884682..97936752hg38UCSC Ensembl
Outerchr10:99644439..99696509hg19UCSC Ensembl
Outerchr10:99634429..99686499hg18UCSC Ensembl
Outerchr10:99634429..99686499hg17UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg383118
hg193118
hg183118
hg173118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619737
SamplesNA10860
Known GenesCRTAC1
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)nsv509364
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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