A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3261



Internal ID15191303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70073418..70098242hg38UCSC Ensembl
Outerchr4:70939135..70963959hg19UCSC Ensembl
Outerchr4:70973724..70998548hg18UCSC Ensembl
Outerchr4:71119895..71144719hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg384833
hg194833
hg184833
hg174833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4378
Supporting Variants
SamplesNA12878
Known GenesCSN1S2AP
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)nssv3261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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