A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5353



Internal ID15550154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:75496246..75508600hg38UCSC Ensembl
Outerchr6:76205962..76218316hg19UCSC Ensembl
Outerchr6:76262682..76275036hg18UCSC Ensembl
Outerchr6:76262682..76275036hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3812355
hg1912355
hg1812355
hg1712355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8264
SamplesNA12156
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)nsv5353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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