A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956040



Internal ID19222031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19274092..19274197hg38UCSC Ensembl
Outerchr20:19254736..19254841hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1109356
Supporting Variants
SamplesKWS1
Known GenesLOC100130264, SLC24A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956040
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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