A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1396



Internal ID15545959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91632816..91639325hg38UCSC Ensembl
Outerchr14:92099160..92105669hg19UCSC Ensembl
Outerchr14:91168913..91175422hg18UCSC Ensembl
Outerchr14:91168913..91175422hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg387130
hg197130
hg187130
hg177130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5519
SamplesNA19129
Known GenesCATSPERB
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)nsv1396
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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