A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1199



Internal ID15544532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63776205..63807146hg38UCSC Ensembl
Outerchr14:64242923..64273864hg19UCSC Ensembl
Outerchr14:63312676..63343617hg18UCSC Ensembl
Outerchr14:63312676..63343617hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg386692
hg196692
hg186692
hg176692
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1305
Supporting Variants
SamplesNA19240
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)nssv1199
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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