A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204



Internal ID15201104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231679504..231724187hg38UCSC Ensembl
Outerchr2:232544214..232588897hg19UCSC Ensembl
Outerchr2:232252458..232297141hg18UCSC Ensembl
Outerchr2:232369719..232414402hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3844684
hg1944684
hg1844684
hg1744684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7626
SamplesNA12156
Known GenesMIR1244-1, MIR1244-2, MIR1244-3, PTMA
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)nsv3204
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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