A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4850



Internal ID15549601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60680359..60743983hg38UCSC Ensembl
Outerchr5:59976186..60039810hg19UCSC Ensembl
Outerchr5:60011943..60075567hg18UCSC Ensembl
Outerchr5:60011943..60075567hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3863625
hg1963625
hg1863625
hg1763625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5999, nssv9667
SamplesNA18507, NA12156
Known GenesDEPDC1B
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)nsv4850
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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