A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3755



Internal ID15548396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180029725..180074419hg38UCSC Ensembl
Outerchr1:179998860..180043554hg19UCSC Ensembl
Outerchr1:178265483..178310177hg18UCSC Ensembl
Outerchr1:176730517..176775211hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3844695
hg1944695
hg1844695
hg1744695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7871
SamplesNA12156
Known GenesCEP350
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)nsv3755
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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