A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10494



Internal ID15195618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44217138..44245141hg38UCSC Ensembl
Outerchr6:44184875..44212878hg19UCSC Ensembl
Outerchr6:44292853..44320856hg18UCSC Ensembl
Outerchr6:44292853..44320856hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3811499
hg1911499
hg1811499
hg1711499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5282
Supporting Variants
SamplesNA18956
Known GenesSLC29A1
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)nssv10494
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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