A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2071



Internal ID15199948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47724137..47766863hg38UCSC Ensembl
Outerchr17:45801503..45844229hg19UCSC Ensembl
Outerchr17:43156502..43199228hg18UCSC Ensembl
Outerchr17:43156502..43199228hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3842727
hg1942727
hg1842727
hg1742727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7330
SamplesNA12156
Known GenesTBX21
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)nsv2071
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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