A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4484



Internal ID15192525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181428031..181458318hg38UCSC Ensembl
Outerchr2:182292758..182323045hg19UCSC Ensembl
Outerchr2:182001003..182031290hg18UCSC Ensembl
Outerchr2:182118264..182148551hg17UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg386200
hg196200
hg186200
hg176200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063
Supporting Variants
SamplesNA12878
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)nssv4484
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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