A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3004



Internal ID15547570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161183115..161217581hg38UCSC Ensembl
Outerchr2:162039626..162074092hg19UCSC Ensembl
Outerchr2:161747872..161782338hg18UCSC Ensembl
Outerchr2:161865133..161899599hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg385278
hg195278
hg185278
hg175278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4474
SamplesNA12878
Known GenesTANK
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)nsv3004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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