A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176



Internal ID15544557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20072139..20118888hg38UCSC Ensembl
Outerchr14:20540298..20587047hg19UCSC Ensembl
Outerchr14:19610138..19656887hg18UCSC Ensembl
Outerchr14:19610138..19656887hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3846750
hg1946750
hg1846750
hg1746750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1202
Supporting Variants
SamplesNA19240
Known GenesOR4K17
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)nssv1176
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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