A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2720



Internal ID15541855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13122644..13146272hg38UCSC Ensembl
Outerchr6:13122876..13146504hg19UCSC Ensembl
Outerchr6:13230862..13254490hg18UCSC Ensembl
Outerchr6:13230862..13254490hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386198
hg196198
hg186198
hg176198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5203
Supporting Variants
SamplesNA18555
Known GenesPHACTR1
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)nssv2720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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