A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987700



Internal ID19220992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32300723..32300776hg38UCSC Ensembl
Outerchr21:33673034..33673087hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132906
Supporting Variants
SamplesKWS1
Known GenesMRAP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987700
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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