A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509659



Internal ID15477157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45481218..45534031hg38UCSC Ensembl
Outerchr17:43558584..43611397hg19UCSC Ensembl
Outerchr17:40914367..40967180hg18UCSC Ensembl
Outerchr17:40914367..40967180hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389423
hg199423
hg189423
hg179423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619715, nssv623714, nssv618122
SamplesCHM, NA18994, NA10860
Known GenesLRRC37A4P, PLEKHM1
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)nsv509659
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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