A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1476



Internal ID15544227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5539620..5573189hg38UCSC Ensembl
Outerchr2:5679752..5713321hg19UCSC Ensembl
Outerchr2:5597203..5630772hg18UCSC Ensembl
Outerchr2:5630350..5663919hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg387432
hg197432
hg187432
hg177432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2587
Supporting Variants
SamplesNA19240
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)nssv1476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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