A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1230



Internal ID15199107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30680623..30692549hg38UCSC Ensembl
Outerchr14:31149829..31161755hg19UCSC Ensembl
Outerchr14:30219580..30231506hg18UCSC Ensembl
Outerchr14:30219580..30231506hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386852
hg196852
hg186852
hg176852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2914
SamplesNA18555
Known GenesSCFD1
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)nsv1230
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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