A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250



Internal ID15551141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71476346..71493753hg38UCSC Ensembl
Outerchr8:72388581..72405988hg19UCSC Ensembl
Outerchr8:72551135..72568542hg18UCSC Ensembl
Outerchr8:72551135..72568542hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387954
hg197954
hg187954
hg177954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9917, nssv5100
SamplesNA18507, NA19129
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)nsv6250
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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