A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3808



Internal ID15201768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47762613..47805200hg38UCSC Ensembl
Outerchr3:47804103..47846690hg19UCSC Ensembl
Outerchr3:47779107..47821694hg18UCSC Ensembl
Outerchr3:47779107..47821694hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388153
hg198153
hg188153
hg178153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7008, nssv2394, nssv3161, nssv5964, nssv1677, nssv9380
SamplesNA12156, NA12878, NA18555, NA18517, NA19240, NA19129
Known GenesDHX30, SMARCC1
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)nsv3808
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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