A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7031



Internal ID15190147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128640247..128664863hg38UCSC Ensembl
Outerchr3:128359090..128383706hg19UCSC Ensembl
Outerchr3:129841780..129866396hg18UCSC Ensembl
Outerchr3:129841788..129866404hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3811592
hg1911592
hg1811592
hg1711592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3994
Supporting Variants
SamplesNA12156
Known GenesRPN1
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)nssv7031
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