A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1438



Internal ID15199315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104946391..104991244hg38UCSC Ensembl
Outerchr14:105412728..105457581hg19UCSC Ensembl
Outerchr14:104483773..104528626hg18UCSC Ensembl
Outerchr14:104483773..104528626hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3844854
hg1944854
hg1844854
hg1744854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9247
SamplesNA12156
Known GenesAHNAK2, C14orf79
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)nsv1438
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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