A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2476



Internal ID15547039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:114108800..114141413hg38UCSC Ensembl
Outerchr1:114651422..114684035hg19UCSC Ensembl
Outerchr1:114452945..114485558hg18UCSC Ensembl
Outerchr1:114363464..114396077hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388390
hg198390
hg188390
hg178390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1349
SamplesNA19240
Known GenesSYT6
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)nsv2476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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