A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1378



Internal ID15545941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:82521214..82566749hg38UCSC Ensembl
Outerchr14:82987558..83033093hg19UCSC Ensembl
Outerchr14:82057311..82102846hg18UCSC Ensembl
Outerchr14:82057311..82102846hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3845536
hg1945536
hg1845536
hg1745536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083
SamplesNA18555
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)nsv1378
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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