A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3161



Internal ID15191203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47780878..47805200hg38UCSC Ensembl
Outerchr3:47822368..47846690hg19UCSC Ensembl
Outerchr3:47797372..47821694hg18UCSC Ensembl
Outerchr3:47797372..47821694hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388473
hg198473
hg188473
hg178473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3808
Supporting Variants
SamplesNA12878
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)nssv3161
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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