A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516



Internal ID8517315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:143979184..144024675hg38UCSC Ensembl
Outerchr6:144300321..144345812hg19UCSC Ensembl
Outerchr6:144342014..144387505hg18UCSC Ensembl
Outerchr6:144342014..144387505hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3845492
hg1945492
hg1845492
hg1745492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6092
SamplesNA12156
Known GenesHYMAI, PLAGL1
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)nsv5516
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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