A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3082



Internal ID15547656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190627513..190688068hg38UCSC Ensembl
Outerchr2:191492239..191552794hg19UCSC Ensembl
Outerchr2:191200484..191261039hg18UCSC Ensembl
Outerchr2:191317745..191378300hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg389067
hg199067
hg189067
hg179067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11028, nssv3042
SamplesNA15510, NA18555
Known GenesNAB1
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)nsv3082
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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