A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074806



Internal ID18973563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6713086..6714887hg38UCSC Ensembl
chr5:6713199..6715000hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767881
SamplesKWP1
Known GenesPAPD7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074806
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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