A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2730



Internal ID15547293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53726544..53760892hg38UCSC Ensembl
Outerchr2:53953681..53988029hg19UCSC Ensembl
Outerchr2:53807185..53841533hg18UCSC Ensembl
Outerchr2:53865332..53899680hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg385683
hg195683
hg185683
hg175683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3019
SamplesNA18555
Known GenesASB3, GPR75-ASB3
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)nsv2730
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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