A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3479



Internal ID15538207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150191200..150206459hg38UCSC Ensembl
Outerchr6:150512336..150527595hg19UCSC Ensembl
Outerchr6:150554029..150569288hg18UCSC Ensembl
Outerchr6:150604450..150619709hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg385123
hg195123
hg185123
hg175123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537
Supporting Variants
SamplesNA12878
Known GenesPPP1R14C
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)nssv3479
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