A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680



Internal ID15203828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29161353..29194769hg38UCSC Ensembl
Outerchr7:29200969..29234385hg19UCSC Ensembl
Outerchr7:29167494..29200910hg18UCSC Ensembl
Outerchr7:28974209..29007625hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386330
hg196330
hg186330
hg176330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515
SamplesNA12878
Known GenesCHN2
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)nsv5680
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