A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994699



Internal ID18864979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50930163..50931463hg38UCSC Ensembl
Outerchr20:49546700..49548000hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143987
Supporting Variants
SamplesKWS1
Known GenesADNP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994699
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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