A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2488



Internal ID15200365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40087911..40125499hg38UCSC Ensembl
Outerchr19:40593818..40631406hg19UCSC Ensembl
Outerchr19:45285658..45323246hg18UCSC Ensembl
Outerchr19:45285658..45323246hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3837589
hg1937589
hg1837589
hg1737589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7441, nssv2228
SamplesNA12156, NA18555
Known GenesZNF780A
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)nsv2488
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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