A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1344



Internal ID15199221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:71860965..71891937hg38UCSC Ensembl
Outerchr14:72327682..72358654hg19UCSC Ensembl
Outerchr14:71397435..71428407hg18UCSC Ensembl
Outerchr14:71397435..71428407hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg388516
hg198516
hg188516
hg178516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10022
SamplesNA18956
Known Genes
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)nsv1344
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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