A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv710



Internal ID15552075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43069449..43114250hg38UCSC Ensembl
Outerchr1:43535120..43579921hg19UCSC Ensembl
Outerchr1:43307707..43352508hg18UCSC Ensembl
Outerchr1:43204213..43249014hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3844802
hg1944802
hg1844802
hg1744802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9088
SamplesNA12156
Known Genes
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)nsv710
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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