A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2149



Internal ID15546712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77235152..77245544hg38UCSC Ensembl
Outerchr17:75231234..75241626hg19UCSC Ensembl
Outerchr17:72742829..72753221hg18UCSC Ensembl
Outerchr17:72742829..72753221hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3816370
hg1916370
hg1816370
hg1716370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5678
SamplesNA19129
Known Genes
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)nsv2149
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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