A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7681



Internal ID15189497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41327208..41372341hg38UCSC Ensembl
Outerchr20:39955848..40000981hg19UCSC Ensembl
Outerchr20:39389262..39434395hg18UCSC Ensembl
Outerchr20:39389262..39434395hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3845134
hg1945134
hg1845134
hg1745134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3381
Supporting Variants
SamplesNA12156
Known GenesEMILIN3, LPIN3
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)nssv7681
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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