A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6203



Internal ID15551089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:56602621..56636058hg38UCSC Ensembl
Outerchr8:57515180..57548617hg19UCSC Ensembl
Outerchr8:57677734..57711171hg18UCSC Ensembl
Outerchr8:57677734..57711171hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg386310
hg196310
hg186310
hg176310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3650
SamplesNA12878
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)nsv6203
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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