A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155858



Internal ID22086363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:124678553..124680551hg38UCSC Ensembl
Outerchr2:124673210..124681992hg38UCSC Ensembl
Innerchr2:125436130..125438128hg19UCSC Ensembl
Outerchr2:125430787..125439569hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388783
hg198783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4013359, nssv4013358
Samples
Known GenesCNTNAP5
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155858
Frequency
Sample Size131
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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