A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8385



Internal ID15188793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:69583622..69601774hg38UCSC Ensembl
Outerchr7:69048608..69066760hg19UCSC Ensembl
Outerchr7:68686544..68704696hg18UCSC Ensembl
Outerchr7:68493259..68511411hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3818153
hg1918153
hg1818153
hg1718153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5783
Supporting Variants
SamplesNA12156
Known GenesAUTS2, LOC100507468
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)nssv8385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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