A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1188



Internal ID15544544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:40126414..40165669hg38UCSC Ensembl
Outerchr14:40595618..40634873hg19UCSC Ensembl
Outerchr14:39665369..39704623hg18UCSC Ensembl
Outerchr14:39665369..39704623hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3839256
hg1939256
hg1839255
hg1739255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1249
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)nssv1188
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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