A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4012



Internal ID15538739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12631867..12658610hg38UCSC Ensembl
Outerchr12:12784801..12811544hg19UCSC Ensembl
Outerchr12:12676068..12702811hg18UCSC Ensembl
Outerchr12:12676068..12702811hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384932
hg194932
hg184932
hg174932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612
Supporting Variants
SamplesNA12878
Known GenesCREBL2
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)nssv4012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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