A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2394



Internal ID15194055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47780003..47784882hg38UCSC Ensembl
Outerchr3:47821493..47826372hg19UCSC Ensembl
Outerchr3:47796497..47801376hg18UCSC Ensembl
Outerchr3:47796497..47801376hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388380
hg198380
hg188380
hg178380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3808
Supporting Variants
SamplesNA18555
Known GenesSMARCC1
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)nssv2394
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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