A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8989



Internal ID15534875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3497843..3540226hg38UCSC Ensembl
Outerchr12:3607009..3649392hg19UCSC Ensembl
Outerchr12:3477270..3519653hg18UCSC Ensembl
Outerchr12:3477270..3519653hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3842384
hg1942384
hg1842384
hg1742384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581
Supporting Variants
SamplesNA12156
Known GenesPRMT8
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)nssv8989
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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