A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063



Internal ID15200949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181404842..181458318hg38UCSC Ensembl
Outerchr2:182269569..182323045hg19UCSC Ensembl
Outerchr2:181977814..182031290hg18UCSC Ensembl
Outerchr2:182095075..182148551hg17UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg385501
hg195501
hg185501
hg175501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7588, nssv4484
SamplesNA12156, NA12878
Known GenesITGA4
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)nsv3063
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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