A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130446



Internal ID18935931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550483..43553419hg38UCSC Ensembl
Outerchr21:44970364..44973300hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382937
hg192937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2399n106
Supporting Variantsnssv3990111, nssv3964479
SamplesKWS2, KWS1
Known GenesHSF2BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130446
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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