A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122775



Internal ID18917521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121851677..121852022hg38UCSC Ensembl
Outerchr12:122289583..122289928hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv883n106
Supporting Variantsnssv3963667, nssv3968830
SamplesKWS2, KWS1
Known GenesHPD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122775
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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