A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2123



Internal ID8513668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:65053359..65076021hg38UCSC Ensembl
Outerchr17:63049477..63072139hg19UCSC Ensembl
Outerchr17:60479939..60502601hg18UCSC Ensembl
Outerchr17:60479939..60502601hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg386044
hg196044
hg186044
hg176044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2972
SamplesNA18555
Known GenesGNA13
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)nsv2123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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