A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510718



Internal ID15826743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57430074..57478919hg38UCSC Ensembl
Outerchr17:55507435..55556280hg19UCSC Ensembl
Outerchr17:52862434..52911279hg18UCSC Ensembl
Outerchr17:52862434..52911279hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3848846
hg1948846
hg1848846
hg1748846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617430
SamplesCHM
Known GenesMSI2
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)nsv510718
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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