A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3109



Internal ID15200999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200896870..200942486hg38UCSC Ensembl
Outerchr2:201761593..201807209hg19UCSC Ensembl
Outerchr2:201469838..201515454hg18UCSC Ensembl
Outerchr2:201587099..201632715hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3845617
hg1945617
hg1845617
hg1745617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6895
SamplesNA12156
Known GenesNIF3L1, ORC2
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)nsv3109
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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