A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5770



Internal ID15543638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4731231..4761192hg38UCSC Ensembl
Outerchr2:4778821..4808782hg19UCSC Ensembl
Outerchr2:4756696..4786657hg18UCSC Ensembl
Outerchr2:4272190..4302151hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3829962
hg1929962
hg1829962
hg1729962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2580
Supporting Variants
SamplesNA19129
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)nssv5770
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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