A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2081



Internal ID15199958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50455308..50499820hg38UCSC Ensembl
Outerchr17:48532669..48577181hg19UCSC Ensembl
Outerchr17:45887668..45932180hg18UCSC Ensembl
Outerchr17:45887668..45932180hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3844513
hg1944513
hg1844513
hg1744513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2179
SamplesNA18555
Known GenesACSF2, CHAD, RSAD1
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)nsv2081
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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