A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509673



Internal ID15477171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74166954..74428841hg38UCSC Ensembl
Outerchr17:72163093..72424980hg19UCSC Ensembl
Outerchr17:69674688..69936575hg18UCSC Ensembl
Outerchr17:69674688..69936575hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386588
hg196588
hg186588
hg176588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623723, nssv623722
SamplesNA18994
Known GenesBTBD17, DNAI2, GPR142, KIF19, MGC16275, RPL38, TTYH2
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)nsv509673
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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