A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6045



Internal ID15204229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1542683..1577255hg38UCSC Ensembl
Outerchr8:1490849..1525421hg19UCSC Ensembl
Outerchr8:1478256..1512828hg18UCSC Ensembl
Outerchr8:1478256..1512828hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg385460
hg195460
hg185460
hg175460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2778
SamplesNA18555
Known GenesDLGAP2, LOC100507435
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)nsv6045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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