A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4337



Internal ID15192378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:858907..883696hg38UCSC Ensembl
Outerchr19:858907..883696hg19UCSC Ensembl
Outerchr19:809907..834696hg18UCSC Ensembl
Outerchr19:809907..834696hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386075
hg196075
hg186075
hg176075
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2385
Supporting Variants
SamplesNA12878
Known GenesCFD, MED16
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)nssv4337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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