A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509571



Internal ID15825597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55934549..56004145hg38UCSC Ensembl
Outerchr15:56226747..56296343hg19UCSC Ensembl
Outerchr15:54014039..54083635hg18UCSC Ensembl
Outerchr15:54014039..54083635hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg384580
hg194580
hg184580
hg174580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623676
SamplesNA18994
Known GenesNEDD4
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)nsv509571
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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