A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4045



Internal ID15548715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145249578..145282034hg38UCSC Ensembl
Outerchr3:144967365..144999821hg19UCSC Ensembl
Outerchr3:146450055..146482511hg18UCSC Ensembl
Outerchr3:146450063..146482519hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg388268
hg198268
hg188268
hg178268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3204, nssv337, nssv10365, nssv7039, nssv4687, nssv2420
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known Genes
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)nsv4045
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer