A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3718



Internal ID15548355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:19479360..19524177hg38UCSC Ensembl
Outerchr3:19520852..19565669hg19UCSC Ensembl
Outerchr3:19495856..19540673hg18UCSC Ensembl
Outerchr3:19495856..19540673hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3844818
hg1944818
hg1844818
hg1744818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7773
SamplesNA12156
Known GenesKCNH8
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)nsv3718
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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