A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9230



Internal ID15187948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:90829121..90863057hg38UCSC Ensembl
Outerchr14:91295465..91329401hg19UCSC Ensembl
Outerchr14:90365218..90399154hg18UCSC Ensembl
Outerchr14:90365218..90399154hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg385503
hg195503
hg185503
hg175503
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1393
Supporting Variants
SamplesNA12156
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)nssv9230
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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