A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4567



Internal ID15192608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17553601..17592436hg38UCSC Ensembl
Outerchr22:18033301..18075202hg19UCSC Ensembl
Outerchr22:16413301..16455202hg18UCSC Ensembl
Outerchr22:16407855..16449756hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3838836
hg1941902
hg1841902
hg1741902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553
Supporting Variants
SamplesNA12878
Known GenesATP6V1E1, CECR2, SLC25A18
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)nssv4567
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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