A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv413



Internal ID15545185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:122328977..122363097hg38UCSC Ensembl
Outerchr4:123250132..123284252hg19UCSC Ensembl
Outerchr4:123469582..123503702hg18UCSC Ensembl
Outerchr4:123607737..123641857hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg386877
hg196877
hg186877
hg176877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4496
Supporting Variants
SamplesNA19240
Known GenesKIAA1109
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)nssv413
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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