A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133556



Internal ID19271491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50502969..50504069hg38UCSC Ensembl
Outerchr3:50540400..50541500hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994755, nssv3969501
SamplesKWS2, KWS1
Known GenesCACNA2D2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133556
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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