A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7519



Internal ID15205850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:100517567..100539513hg38UCSC Ensembl
Outerchr10:102277324..102299270hg19UCSC Ensembl
Outerchr10:102267314..102289260hg18UCSC Ensembl
Outerchr10:102267314..102289260hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3817552
hg1917552
hg1817552
hg1717552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10776
SamplesNA18956
Known GenesHIF1AN, NDUFB8, SEC31B
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)nsv7519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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