A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2628



Internal ID15547191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:19535197..19581897hg38UCSC Ensembl
Outerchr2:19734958..19781658hg19UCSC Ensembl
Outerchr2:19598439..19645139hg18UCSC Ensembl
Outerchr2:19656586..19703286hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3846701
hg1946701
hg1846701
hg1746701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1481
SamplesNA19240
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)nsv2628
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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