A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2596



Internal ID15540519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:65684084..65705084hg38UCSC Ensembl
Outerchr6:66393977..66414977hg19UCSC Ensembl
Outerchr6:66450698..66471698hg18UCSC Ensembl
Outerchr6:66450698..66471698hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3821001
hg1921001
hg1821001
hg1721001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5329
Supporting Variants
SamplesNA18555
Known GenesEYS
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)nssv2596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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