A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981528



Internal ID19217608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205881076..205881576hg38UCSC Ensembl
Outerchr2:206745800..206746300hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144922
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981528
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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