A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2541



Internal ID15200418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53901764..53946589hg38UCSC Ensembl
Outerchr19:54405018..54449843hg19UCSC Ensembl
Outerchr19:59096830..59141655hg18UCSC Ensembl
Outerchr19:59096830..59141655hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3844826
hg1944826
hg1844826
hg1744826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7454, nssv5756
SamplesNA12156, NA19129
Known GenesCACNG7, PRKCG
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)nsv2541
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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