A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138680



Internal ID19260172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20944482..20944532hg38UCSC Ensembl
Outerchr19:21127288..21127338hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991267
SamplesKWS2
Known GenesZNF85
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138680
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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