A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670



Internal ID15198527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102580776..102707682hg38UCSC Ensembl
Outerchr7:102221223..102348129hg19UCSC Ensembl
Outerchr7:102008297..102135365hg18UCSC Ensembl
Outerchr7:101815012..101942080hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38126907
hg19126907
hg18127069
hg17127069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879
Supporting Variants
SamplesNA19240
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nssv670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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