A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4761



Internal ID15196516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87322302..87355414hg38UCSC Ensembl
Outerchr4:88243454..88276566hg19UCSC Ensembl
Outerchr4:88462478..88495590hg18UCSC Ensembl
Outerchr4:88600633..88633745hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3833113
hg1933113
hg1833113
hg1733113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4412
Supporting Variants
SamplesNA19129
Known GenesHSD17B11, HSD17B13
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)nssv4761
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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