A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2384



Internal ID15200261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:430805..444497hg38UCSC Ensembl
Outerchr19:430805..444497hg19UCSC Ensembl
Outerchr19:381805..395497hg18UCSC Ensembl
Outerchr19:381805..395497hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384687
hg194687
hg184687
hg174687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4336
SamplesNA12878
Known GenesSHC2
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)nsv2384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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