A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3085



Internal ID15200973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191868220..191903505hg38UCSC Ensembl
Outerchr2:192732946..192768231hg19UCSC Ensembl
Outerchr2:192441191..192476476hg18UCSC Ensembl
Outerchr2:192558452..192593737hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg384422
hg194422
hg184422
hg174422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4490
SamplesNA12878
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)nsv3085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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