A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1862



Internal ID15199739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71900888..71935083hg38UCSC Ensembl
Outerchr16:71934791..71968986hg19UCSC Ensembl
Outerchr16:70492292..70526487hg18UCSC Ensembl
Outerchr16:70492292..70526487hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg385240
hg195240
hg185240
hg175240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7274
SamplesNA12156
Known GenesIST1, PKD1L3
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)nsv1862
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