A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3443



Internal ID15548053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168608344..168653067hg38UCSC Ensembl
Outerchr1:168577582..168622305hg19UCSC Ensembl
Outerchr1:166844206..166888929hg18UCSC Ensembl
Outerchr1:165309240..165353963hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3844724
hg1944724
hg1844724
hg1744724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7779
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)nsv3443
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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