A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136433



Internal ID18907603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166228571..166228633hg38UCSC Ensembl
Outerchr2:167085081..167085143hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991462, nssv3955977
SamplesKWS1, KWS2
Known GenesSCN9A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136433
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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