A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2395



Internal ID15200272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5613162..5644262hg38UCSC Ensembl
Outerchr19:5613173..5644273hg19UCSC Ensembl
Outerchr19:5564173..5595273hg18UCSC Ensembl
Outerchr19:5564173..5595273hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388404
hg198404
hg188404
hg178404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10173
SamplesNA18956
Known GenesSAFB, SAFB2
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)nsv2395
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