A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958937



Internal ID18872708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25283709..25287809hg38UCSC Ensembl
Outerchr1:25610200..25614300hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118431
Supporting Variants
SamplesKWS1
Known GenesRHD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958937
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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