A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5983



Internal ID15196696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125078149..125106568hg38UCSC Ensembl
Outerchr3:124796993..124825412hg19UCSC Ensembl
Outerchr3:126279683..126308102hg18UCSC Ensembl
Outerchr3:126279683..126308102hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg386890
hg196890
hg186890
hg176890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3982
Supporting Variants
SamplesNA19129
Known GenesSLC12A8
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)nssv5983
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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