A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5504



Internal ID15543961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63796285..63816698hg38UCSC Ensembl
Outerchr14:64263003..64283416hg19UCSC Ensembl
Outerchr14:63332756..63353169hg18UCSC Ensembl
Outerchr14:63332756..63353169hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387345
hg197345
hg187345
hg177345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1305
Supporting Variants
SamplesNA19129
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)nssv5504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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