A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2121



Internal ID15546684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100115063..100149647hg38UCSC Ensembl
Outerchr1:100580619..100615203hg19UCSC Ensembl
Outerchr1:100353207..100387791hg18UCSC Ensembl
Outerchr1:100292640..100327224hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg386416
hg196416
hg186416
hg176416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1276
SamplesNA19240
Known GenesLRRC39, SASS6, TRMT13
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)nsv2121
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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