A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2167



Internal ID15546730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82559925..82601939hg38UCSC Ensembl
Outerchr17:80517801..80559815hg19UCSC Ensembl
Outerchr17:78111090..78153104hg18UCSC Ensembl
Outerchr17:78111090..78153104hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810416
hg1910416
hg1810416
hg1710416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10138, nssv5685, nssv10982, nssv6735, nssv9971, nssv4296
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA19129
Known GenesFOXK2
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2167
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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