A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1377



Internal ID15545940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:82008079..82072303hg38UCSC Ensembl
Outerchr14:82474423..82538647hg19UCSC Ensembl
Outerchr14:81544176..81608400hg18UCSC Ensembl
Outerchr14:81544176..81608400hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3864225
hg1964225
hg1864225
hg1764225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5515, nssv4128, nssv1213, nssv2082, nssv10027
SamplesNA12878, 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)nsv1377
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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