A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv444



Internal ID15202463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36285574..36329979hg38UCSC Ensembl
Outerchr1:36751175..36795580hg19UCSC Ensembl
Outerchr1:36523762..36568167hg18UCSC Ensembl
Outerchr1:36420268..36464673hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3844406
hg1944406
hg1844406
hg1744406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2067
SamplesNA18555
Known GenesEVA1B, SH3D21, THRAP3
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)nsv444
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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