A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2420



Internal ID15200297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12828187..12863658hg38UCSC Ensembl
Outerchr19:12939001..12974472hg19UCSC Ensembl
Outerchr19:12800001..12835472hg18UCSC Ensembl
Outerchr19:12800001..12835472hg17UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg387754
hg197754
hg187754
hg177754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4345, nssv5730
SamplesNA19129, NA12878
Known GenesMAST1, MIR6794, RTBDN
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)nsv2420
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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