A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127812



Internal ID18920029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:3897927..3897992hg38UCSC Ensembl
Outerchr20:3878574..3878639hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956397
SamplesKWS1
Known GenesPANK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127812
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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