A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830



Internal ID15552851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95575607..95620742hg38UCSC Ensembl
Outerchr12:95969383..96014518hg19UCSC Ensembl
Outerchr12:94493514..94538649hg18UCSC Ensembl
Outerchr12:94471851..94516986hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3845136
hg1945136
hg1845136
hg1745136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2008
SamplesNA18555
Known Genes
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)nsv830
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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