A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1205



Internal ID15544525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69291053..69315300hg38UCSC Ensembl
Outerchr14:69757770..69782017hg19UCSC Ensembl
Outerchr14:68827523..68851770hg18UCSC Ensembl
Outerchr14:68827523..68851770hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg386447
hg196447
hg186447
hg176447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1333
Supporting Variants
SamplesNA19240
Known GenesGALNT16
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)nssv1205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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