A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151217



Internal ID18856068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18627369..19284914hg38UCSC Ensembl
Outerchr19:18738179..19395723hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38657546
hg19657545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002148
SamplesKWB1
Known GenesARMC6, CERS1, COMP, COPE, CRTC1, DDX49, GDF1, HAPLN4, HOMER3, KLHL26, MEF2B, MEF2BNB, MEF2BNB-MEF2B, NCAN, NR2C2AP, RFXANK, SLC25A42, SUGP1, SUGP2, TM6SF2, TMEM161A, UPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151217
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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