A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133663



Internal ID18915520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82443684..82444084hg38UCSC Ensembl
Outerchr7:82073000..82073400hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969231
SamplesKWS2
Known GenesCACNA2D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133663
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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