A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173



Internal ID15547756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220406470..220429388hg38UCSC Ensembl
Outerchr2:221271191..221294109hg19UCSC Ensembl
Outerchr2:220979435..221002353hg18UCSC Ensembl
Outerchr2:221096696..221119614hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386454
hg196454
hg186454
hg176454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3048
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)nsv3173
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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