A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8401



Internal ID15188777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:92522344..92555675hg38UCSC Ensembl
Outerchr7:92151658..92184989hg19UCSC Ensembl
Outerchr7:91989594..92022925hg18UCSC Ensembl
Outerchr7:91796309..91829640hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg386106
hg196106
hg186106
hg176106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841
Supporting Variants
SamplesNA12156
Known GenesMGC16142, PEX1, RBM48
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)nssv8401
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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