A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4753



Internal ID15543217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:72540177..72568543hg38UCSC Ensembl
Outerchr4:73405894..73434260hg19UCSC Ensembl
Outerchr4:73624758..73653124hg18UCSC Ensembl
Outerchr4:73770929..73799295hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3828367
hg1928367
hg1828367
hg1728367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4385
Supporting Variants
SamplesNA19129
Known GenesADAMTS3
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)nssv4753
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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