A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4391



Internal ID15539118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5481314..5496064hg38UCSC Ensembl
Outerchr2:5621446..5636196hg19UCSC Ensembl
Outerchr2:5538897..5553647hg18UCSC Ensembl
Outerchr2:5572044..5586794hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384696
hg194696
hg184696
hg174696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2586
Supporting Variants
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)nssv4391
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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