A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5171



Internal ID15549954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:846776..876771hg38UCSC Ensembl
Outerchr6:846776..876771hg19UCSC Ensembl
Outerchr6:791776..821771hg18UCSC Ensembl
Outerchr6:791776..821771hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3811213
hg1911213
hg1811213
hg1711213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4888, nssv523, nssv4889
SamplesNA19240, 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)nsv5171
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer