A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074710



Internal ID18970330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48833743..48836172hg38UCSC Ensembl
chr4:48835760..48838189hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767937
SamplesKWP1
Known GenesOCIAD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074710
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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