A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509674



Internal ID15477172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76052197..76106436hg38UCSC Ensembl
Outerchr17:74048278..74102517hg19UCSC Ensembl
Outerchr17:71559873..71614112hg18UCSC Ensembl
Outerchr17:71559873..71614112hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384496
hg194496
hg184496
hg174496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619719, nssv623724, nssv621047
SamplesNA18994, NA15510, NA10860
Known GenesEXOC7, GALR2, MIR6868, SRP68, ZACN
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)nsv509674
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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