A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2365



Internal ID15200242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110168134..110177022hg38UCSC Ensembl
Outerchr1:110710756..110719644hg19UCSC Ensembl
Outerchr1:110512279..110521167hg18UCSC Ensembl
Outerchr1:110422798..110431686hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg388889
hg198889
hg188889
hg178889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6809
SamplesNA12156
Known GenesSLC6A17
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)nsv2365
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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