A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2545



Internal ID15540575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137488352..137522107hg38UCSC Ensembl
Outerchr5:136824041..136857796hg19UCSC Ensembl
Outerchr5:136851940..136885695hg18UCSC Ensembl
Outerchr5:136851940..136885695hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3833756
hg1933756
hg1833756
hg1733756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5020
Supporting Variants
SamplesNA18555
Known GenesSPOCK1
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)nssv2545
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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