A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620112



Internal ID15472781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:76484561..76502002hg38UCSC Ensembl
Outerchr10:78244319..78261760hg19UCSC Ensembl
Outerchr10:77914325..77931766hg18UCSC Ensembl
Outerchr10:77914325..77931766hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3817442
hg1917442
hg1817442
hg1717442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508594
Supporting Variants
SamplesNA15510
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)nssv620112
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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