A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5251



Internal ID15550042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33917303..33930271hg38UCSC Ensembl
Outerchr6:33885080..33898048hg19UCSC Ensembl
Outerchr6:33993058..34006026hg18UCSC Ensembl
Outerchr6:33993058..34006026hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg387608
hg197608
hg187608
hg177608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4910
SamplesNA19129
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)nsv5251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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