A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4415



Internal ID15539142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:52519193..52558882hg38UCSC Ensembl
Outerchr2:52746331..52786020hg19UCSC Ensembl
Outerchr2:52599835..52639524hg18UCSC Ensembl
Outerchr2:52657982..52697671hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3839690
hg1939690
hg1839690
hg1739690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2728
Supporting Variants
SamplesNA12878
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)nssv4415
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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