A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509645



Internal ID15825671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1249608..1334590hg38UCSC Ensembl
Outerchr17:1152902..1237884hg19UCSC Ensembl
Outerchr17:1099652..1184634hg18UCSC Ensembl
Outerchr17:1099652..1184634hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386846
hg196846
hg186846
hg176846
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619706, nssv623707
SamplesNA18994, NA10860
Known GenesBHLHA9, TUSC5
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)nsv509645
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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