A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv474



Internal ID15545173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13627698..13658039hg38UCSC Ensembl
Outerchr1:13954193..13984534hg19UCSC Ensembl
Outerchr1:13826780..13857121hg18UCSC Ensembl
Outerchr1:13699499..13729840hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3810660
hg1910660
hg1810660
hg1710660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3076
Supporting Variants
SamplesNA19240
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)nssv474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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