A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3039



Internal ID15547608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173983945..174017055hg38UCSC Ensembl
Outerchr2:174848673..174881783hg19UCSC Ensembl
Outerchr2:174556919..174590029hg18UCSC Ensembl
Outerchr2:174674180..174707290hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387858
hg197858
hg187858
hg177858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1551
SamplesNA19240
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)nsv3039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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