A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509378



Internal ID15476876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132737773..132833305hg38UCSC Ensembl
Outerchr10:134551277..134646809hg19UCSC Ensembl
Outerchr10:134401267..134496799hg18UCSC Ensembl
Outerchr10:134401267..134496799hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg387244
hg197244
hg187244
hg177244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619813
SamplesNA10860
Known GenesINPP5A, NKX6-2, TTC40
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)nsv509378
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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