A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2111



Internal ID15199988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:61188146..61218053hg38UCSC Ensembl
Outerchr17:59265507..59295414hg19UCSC Ensembl
Outerchr17:56620289..56650196hg18UCSC Ensembl
Outerchr17:56620289..56650196hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3829908
hg1929908
hg1829908
hg1729908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7340
SamplesNA12156
Known GenesBCAS3
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)nsv2111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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