A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3162



Internal ID15537890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48487161..48502729hg38UCSC Ensembl
Outerchr3:48528414..48540162hg19UCSC Ensembl
Outerchr3:48503418..48515166hg18UCSC Ensembl
Outerchr3:48503418..48515166hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385006
hg195006
hg185006
hg175006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3809
Supporting Variants
SamplesNA12878
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)nssv3162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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