A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3363



Internal ID15538091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:78589473..78601500hg38UCSC Ensembl
Outerchr5:77885296..77897323hg19UCSC Ensembl
Outerchr5:77921052..77933079hg18UCSC Ensembl
Outerchr5:77921052..77933079hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386629
hg196629
hg186629
hg176629
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4891
Supporting Variants
SamplesNA12878
Known GenesLHFPL2
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)nssv3363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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