A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7118



Internal ID15536746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120190131..120222512hg38UCSC Ensembl
Outerchr4:121111286..121143667hg19UCSC Ensembl
Outerchr4:121330736..121363117hg18UCSC Ensembl
Outerchr4:121468891..121501272hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg387056
hg197056
hg187056
hg177056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4489
Supporting Variants
SamplesNA12156
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)nssv7118
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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