A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2478



Internal ID15547041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37534438..37552916hg38UCSC Ensembl
Outerchr19:38025340..38043818hg19UCSC Ensembl
Outerchr19:42717180..42735658hg18UCSC Ensembl
Outerchr19:42717180..42735658hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3818479
hg1918479
hg1818479
hg1718479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7440
SamplesNA12156
Known GenesZNF540, ZNF571-AS1, ZNF793
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)nsv2478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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