A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6057



Internal ID15550928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6453090..6485238hg38UCSC Ensembl
Outerchr8:6310611..6342759hg19UCSC Ensembl
Outerchr8:6298019..6330167hg18UCSC Ensembl
Outerchr8:6298019..6330167hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387874
hg197874
hg187874
hg177874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1712
SamplesNA18555
Known GenesMCPH1
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)nsv6057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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