A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6054



Internal ID15537809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19763844..19796656hg38UCSC Ensembl
Outerchr6:19764075..19796887hg19UCSC Ensembl
Outerchr6:19872054..19904866hg18UCSC Ensembl
Outerchr6:19872054..19904866hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386628
hg196628
hg186628
hg176628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5220
Supporting Variants
SamplesNA12156
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)nssv6054
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