A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5229



Internal ID15550017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25911923..25956330hg38UCSC Ensembl
Outerchr6:25912151..25956558hg19UCSC Ensembl
Outerchr6:26020130..26064537hg18UCSC Ensembl
Outerchr6:26020130..26064537hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3844408
hg1944408
hg1844408
hg1744408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2576
SamplesNA18555
Known GenesSLC17A2
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)nsv5229
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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