A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138956



Internal ID18928964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36894334..36894393hg38UCSC Ensembl
Outerchr20:35522737..35522796hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955662, nssv3973715
SamplesKWS1, KWS2
Known GenesSAMHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138956
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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