A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7021



Internal ID15190157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111740745..111773518hg38UCSC Ensembl
Outerchr3:111459592..111492365hg19UCSC Ensembl
Outerchr3:112942282..112975055hg18UCSC Ensembl
Outerchr3:112942282..112975055hg17UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg386664
hg196664
hg186664
hg176664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947
Supporting Variants
SamplesNA12156
Known GenesPHLDB2, PLCXD2
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)nssv7021
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