A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507834



Internal ID15823864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:10417046..10423046hg38UCSC Ensembl
Outerchr17:10320363..10326363hg19UCSC Ensembl
Outerchr17:10261088..10267088hg18UCSC Ensembl
Outerchr17:10261088..10267088hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623220, nssv620612
SamplesNA15510, NA18994
Known GenesMYH8
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)nsv507834
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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