A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2419



Internal ID15546982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12549691..12605383hg38UCSC Ensembl
Outerchr19:12660505..12716197hg19UCSC Ensembl
Outerchr19:12521505..12577197hg18UCSC Ensembl
Outerchr19:12521505..12577197hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3855693
hg1955693
hg1855693
hg1755693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6773, nssv5729, nssv4344, nssv1437
SamplesNA12156, NA12878, NA19240, NA19129
Known GenesZNF490, ZNF564
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)nsv2419
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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