A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553



Internal ID15201488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17553601..17608096hg38UCSC Ensembl
Outerchr22:18033301..18090862hg19UCSC Ensembl
Outerchr22:16413301..16470862hg18UCSC Ensembl
Outerchr22:16407855..16465416hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3854496
hg1957562
hg1857562
hg1757562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2355, nssv4567, nssv7730
SamplesNA12156, NA12878, NA18555
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)nsv3553
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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