A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5227



Internal ID15203329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24773921..24823784hg38UCSC Ensembl
Outerchr6:24774149..24824012hg19UCSC Ensembl
Outerchr6:24882128..24931991hg18UCSC Ensembl
Outerchr6:24882128..24931991hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3849864
hg1949864
hg1849864
hg1749864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2575, nssv10490, nssv9686, nssv3421, nssv6055
SamplesNA18507, NA18956, NA12156, NA12878, NA18555
Known GenesFAM65B, GMNN, LOC101928603
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)nsv5227
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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