A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508594



Internal ID15480270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:76484561..76521491hg38UCSC Ensembl
Outerchr10:78244319..78281249hg19UCSC Ensembl
Outerchr10:77914325..77951255hg18UCSC Ensembl
Outerchr10:77914325..77951255hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3836931
hg1936931
hg1836931
hg1736931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622708, nssv620112
SamplesNA15510, NA18994
Known GenesC10orf11
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)nsv508594
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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