A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623707



Internal ID15822280
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
hg384140
hg194140
hg184140
hg174140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509645
Supporting Variants
SamplesNA18994
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)nssv623707
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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