A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1402



Internal ID15545965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93035046..93066796hg38UCSC Ensembl
Outerchr14:93501391..93533141hg19UCSC Ensembl
Outerchr14:92571144..92602894hg18UCSC Ensembl
Outerchr14:92571144..92602894hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg387750
hg197750
hg187750
hg177750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10029
SamplesNA18956
Known GenesITPK1
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)nsv1402
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