A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6715



Internal ID15551652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125803152..125829695hg38UCSC Ensembl
Outerchr9:128565431..128591974hg19UCSC Ensembl
Outerchr9:127605252..127631795hg18UCSC Ensembl
Outerchr9:125644985..125671528hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385607
hg195607
hg185607
hg175607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv834, nssv3752, nssv5181, nssv10684
SamplesNA12878, NA18956, NA19240, NA19129
Known GenesPBX3
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)nsv6715
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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