A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2069



Internal ID15541352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35008451..35053781hg38UCSC Ensembl
Outerchr14:35477657..35522987hg19UCSC Ensembl
Outerchr14:34547408..34592738hg18UCSC Ensembl
Outerchr14:34547408..34592738hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3845331
hg1945331
hg1845331
hg1745331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1239
Supporting Variants
SamplesNA18555
Known GenesFAM177A1, SRP54
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)nssv2069
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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