A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5020



Internal ID15549788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137488352..137528769hg38UCSC Ensembl
Outerchr5:136824041..136864458hg19UCSC Ensembl
Outerchr5:136851940..136892357hg18UCSC Ensembl
Outerchr5:136851940..136892357hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3840418
hg1940418
hg1840418
hg1740418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2545, nssv6023
SamplesNA12156, NA18555
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)nsv5020
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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