A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991535



Internal ID19233801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14591097..14593163hg38UCSC Ensembl
Outerchr20:14571743..14573809hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382067
hg192067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138922
Supporting Variants
SamplesKWS2
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991535
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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