A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6401



Internal ID15551307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:132080059..132113488hg38UCSC Ensembl
Outerchr8:133092306..133125735hg19UCSC Ensembl
Outerchr8:133161488..133194917hg18UCSC Ensembl
Outerchr8:133161488..133194917hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg386006
hg196006
hg186006
hg176006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8559
SamplesNA12156
Known GenesHHLA1
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)nsv6401
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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