A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4512



Internal ID15539239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234085179..234115252hg38UCSC Ensembl
Outerchr2:234993823..235023896hg19UCSC Ensembl
Outerchr2:234658562..234688635hg18UCSC Ensembl
Outerchr2:234775823..234805896hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg389672
hg199672
hg189672
hg179672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217
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)nssv4512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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