A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074320



Internal ID18975091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94773894..94774269hg38UCSC Ensembl
chr5:94109599..94109974hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771063
SamplesKWP1
Known GenesMCTP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074320
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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