A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7742



Internal ID15536122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32834120..32878802hg38UCSC Ensembl
Outerchr22:33230106..33274789hg19UCSC Ensembl
Outerchr22:31560106..31604789hg18UCSC Ensembl
Outerchr22:31554660..31599343hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3844683
hg1944684
hg1844684
hg1744684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3599
Supporting Variants
SamplesNA12156
Known GenesSYN3, TIMP3
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)nssv7742
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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