A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1678



Internal ID15198700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50296180..50330789hg38UCSC Ensembl
Outerchr3:50333611..50368220hg19UCSC Ensembl
Outerchr3:50308615..50343224hg18UCSC Ensembl
Outerchr3:50308615..50343224hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3834610
hg1934610
hg1834610
hg1734610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3813
Supporting Variants
SamplesNA19240
Known GenesHYAL1, HYAL2, HYAL3, NAT6, RASSF1, TUSC2
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)nssv1678
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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