A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072095



Internal ID19322389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9989980..9990199hg38UCSC Ensembl
chr5:9990092..9990311hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770711
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072095
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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