A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2474



Internal ID15200351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36313567..36374513hg38UCSC Ensembl
Outerchr19:36804469..36865415hg19UCSC Ensembl
Outerchr19:41496309..41557255hg18UCSC Ensembl
Outerchr19:41496309..41557255hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3860947
hg1960947
hg1860947
hg1760947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4357, nssv2220, nssv10994
SamplesNA15510, NA12878, NA18555
Known GenesLINC00665, ZFP14
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)nsv2474
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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