A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3257



Internal ID15537985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55730196..55764944hg38UCSC Ensembl
Outerchr4:56596363..56631110hg19UCSC Ensembl
Outerchr4:56291120..56325867hg18UCSC Ensembl
Outerchr4:56437291..56472038hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385000
hg195000
hg185000
hg175000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4346
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)nssv3257
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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