A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072504



Internal ID18975784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235734969..235735066hg38UCSC Ensembl
chr2:236643613..236643710hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765293
SamplesKWP1
Known GenesAGAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072504
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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