A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2552



Internal ID15540568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150785595..150813684hg38UCSC Ensembl
Outerchr5:150165157..150193246hg19UCSC Ensembl
Outerchr5:150145350..150173439hg18UCSC Ensembl
Outerchr5:150145350..150173439hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3828090
hg1928090
hg1828090
hg1728090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5067
Supporting Variants
SamplesNA18555
Known GenesSMIM3
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)nssv2552
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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