A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1306



Internal ID15544414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48686412..48720690hg38UCSC Ensembl
Outerchr16:48720323..48754601hg19UCSC Ensembl
Outerchr16:47277824..47312102hg18UCSC Ensembl
Outerchr16:47277824..47312102hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg386705
hg196705
hg186705
hg176705
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1800
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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