A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2132



Internal ID15200009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100307345..100341280hg38UCSC Ensembl
Outerchr1:100772901..100806836hg19UCSC Ensembl
Outerchr1:100545489..100579424hg18UCSC Ensembl
Outerchr1:100484922..100518857hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385504
hg195504
hg185504
hg175504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7423
SamplesNA12156
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)nsv2132
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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