A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138161



Internal ID18913983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:94275556..94275879hg38UCSC Ensembl
Outerchr12:94669332..94669655hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv853n106
Supporting Variantsnssv3971733, nssv3963111
SamplesKWS2, KWS1
Known GenesPLXNC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138161
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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