A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3991



Internal ID15201970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128048752..128081671hg38UCSC Ensembl
Outerchr3:127767595..127800514hg19UCSC Ensembl
Outerchr3:129250285..129283204hg18UCSC Ensembl
Outerchr3:129250293..129283212hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386519
hg196519
hg186519
hg176519
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7029
SamplesNA12156
Known GenesRUVBL1, SEC61A1
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)nsv3991
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