A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6180



Internal ID15551064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47922191..47955004hg38UCSC Ensembl
Outerchr8:48834751..48867564hg19UCSC Ensembl
Outerchr8:48997304..49030117hg18UCSC Ensembl
Outerchr8:48997304..49030117hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg386627
hg196627
hg186627
hg176627
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6221
SamplesNA12156
Known GenesPRKDC
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)nsv6180
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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