A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv546



Internal ID15197932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41906650..41908185hg38UCSC Ensembl
Outerchr6:41874388..41875923hg19UCSC Ensembl
Outerchr6:41982366..41983901hg18UCSC Ensembl
Outerchr6:41982366..41983901hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3839452
hg1939452
hg1839452
hg1739452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5278
Supporting Variants
SamplesNA19240
Known GenesMED20
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)nssv546
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