A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2978



Internal ID15200855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151691328..151724940hg38UCSC Ensembl
Outerchr2:152547842..152581454hg19UCSC Ensembl
Outerchr2:152256088..152289700hg18UCSC Ensembl
Outerchr2:152373350..152406962hg17UCSC Ensembl
Cytoband2q23.3
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 Variantsnssv3034
SamplesNA18555
Known GenesNEB
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)nsv2978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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