A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3439



Internal ID15548048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61928336..61972978hg38UCSC Ensembl
Outerchr20:60503394..60548034hg19UCSC Ensembl
Outerchr20:59936789..59981429hg18UCSC Ensembl
Outerchr20:59936789..59981429hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3844643
hg1944641
hg1844641
hg1744641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4547, nssv2342
SamplesNA12878, NA18555
Known GenesCDH4, MIR1257
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)nsv3439
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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