A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv665



Internal ID15204894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32203340..32237786hg38UCSC Ensembl
Outerchr12:32356274..32390720hg19UCSC Ensembl
Outerchr12:32247541..32281987hg18UCSC Ensembl
Outerchr12:32247541..32281987hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385563
hg195563
hg185563
hg175563
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2881
SamplesNA18555
Known GenesBICD1
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)nsv665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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