A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509342



Internal ID15825368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:8783960..8821183hg38UCSC Ensembl
Outerchr10:8825923..8863146hg19UCSC Ensembl
Outerchr10:8865929..8903152hg18UCSC Ensembl
Outerchr10:8865929..8903152hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg384223
hg194223
hg184223
hg174223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619288, nssv623705
SamplesNA18994, NA10860
Known Genes
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)nsv509342
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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