A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072359



Internal ID18972783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7994032..7995166hg38UCSC Ensembl
chr4:7995759..7996893hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767378
SamplesKWP1
Known GenesABLIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072359
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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