A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1330



Internal ID15545893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69021860..69040042hg38UCSC Ensembl
Outerchr14:69488577..69506759hg19UCSC Ensembl
Outerchr14:68558330..68576512hg18UCSC Ensembl
Outerchr14:68558330..68576512hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg386080
hg196080
hg186080
hg176080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9212, nssv2921
SamplesNA12156, NA18555
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)nsv1330
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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