A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136455



Internal ID18921461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191300293..191300343hg38UCSC Ensembl
Outerchr2:192165019..192165069hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972843, nssv3956363
SamplesKWS2, KWS1
Known GenesMYO1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136455
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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