A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620018



Internal ID15472689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13394856..13476061hg38UCSC Ensembl
Outerchr10:13436856..13518061hg19UCSC Ensembl
Outerchr10:13476862..13558067hg18UCSC Ensembl
Outerchr10:13476862..13558067hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3881206
hg1981206
hg1881206
hg1781206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508568
Supporting Variants
SamplesNA15510
Known GenesBEND7
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)nssv620018
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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