A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv391



Internal ID15545045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70838166..70873337hg38UCSC Ensembl
Outerchr4:71703883..71739054hg19UCSC Ensembl
Outerchr4:71922747..71957918hg18UCSC Ensembl
Outerchr4:72068918..72104089hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385828
hg195828
hg185828
hg175828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4381
Supporting Variants
SamplesNA19240
Known GenesGRSF1
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)nssv391
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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