A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6438



Internal ID15204661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143194984..143230416hg38UCSC Ensembl
Outerchr8:144276446..144312586hg19UCSC Ensembl
Outerchr8:144347821..144383961hg18UCSC Ensembl
Outerchr8:144347821..144383961hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386486
hg196486
hg186486
hg176486
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11199, nssv8571
SamplesNA12156, NA15510
Known GenesGPIHBP1
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)nsv6438
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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