A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529



Internal ID15550347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:148534687..148565778hg38UCSC Ensembl
Outerchr6:148855823..148886914hg19UCSC Ensembl
Outerchr6:148897516..148928607hg18UCSC Ensembl
Outerchr6:148897516..148928607hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3831092
hg1931092
hg1831092
hg1731092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8311
SamplesNA12156
Known GenesSASH1
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)nsv5529
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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