A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7250



Internal ID15189928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50307115..50352023hg38UCSC Ensembl
Outerchr16:50341026..50385934hg19UCSC Ensembl
Outerchr16:48898527..48943435hg18UCSC Ensembl
Outerchr16:48898527..48943435hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3844909
hg1944909
hg1844909
hg1744909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1805
Supporting Variants
SamplesNA12156
Known GenesADCY7, BRD7
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)nssv7250
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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