A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3094



Internal ID15540881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48474359..48502175hg38UCSC Ensembl
Outerchr3:48515768..48539608hg19UCSC Ensembl
Outerchr3:48490772..48514612hg18UCSC Ensembl
Outerchr3:48490772..48514612hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385924
hg195924
hg185924
hg175924
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3809
Supporting Variants
SamplesNA18555
Known GenesSHISA5
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)nssv3094
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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