A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3150



Internal ID15547731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:212809508..212841273hg38UCSC Ensembl
Outerchr2:213674232..213705997hg19UCSC Ensembl
Outerchr2:213382477..213414242hg18UCSC Ensembl
Outerchr2:213499738..213531503hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387674
hg197674
hg187674
hg177674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6898
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)nsv3150
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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