A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1194



Internal ID15197851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52754853..52788471hg38UCSC Ensembl
Outerchr14:53221571..53255189hg19UCSC Ensembl
Outerchr14:52291321..52324939hg18UCSC Ensembl
Outerchr14:52291321..52324939hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg387368
hg197368
hg187368
hg177368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1279
Supporting Variants
SamplesNA19240
Known GenesGNPNAT1, STYX
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)nssv1194
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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