A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9111



Internal ID15188067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3476928..3506450hg38UCSC Ensembl
Outerchr1:3393492..3423014hg19UCSC Ensembl
Outerchr1:3383352..3412874hg18UCSC Ensembl
Outerchr1:3416649..3446171hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385428
hg195428
hg185428
hg175428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv299
Supporting Variants
SamplesNA12156
Known GenesARHGEF16, MEGF6
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)nssv9111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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