A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2996



Internal ID15547561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159638415..159668538hg38UCSC Ensembl
Outerchr2:160494926..160525049hg19UCSC Ensembl
Outerchr2:160203172..160233295hg18UCSC Ensembl
Outerchr2:160320433..160350556hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg389373
hg199373
hg189373
hg179373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10247
SamplesNA18956
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)nsv2996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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