A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6448



Internal ID15204672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144102165..144128264hg38UCSC Ensembl
Outerchr8:145157068..145183167hg19UCSC Ensembl
Outerchr8:145229056..145255155hg18UCSC Ensembl
Outerchr8:145229056..145255155hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810137
hg1910137
hg1810137
hg1710137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5143
SamplesNA19129
Known GenesKIAA1875, MAF1, SHARPIN
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)nsv6448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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