A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130947



Internal ID19258774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21622490..21622812hg38UCSC Ensembl
Outerchr12:21775424..21775746hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv780n106
Supporting Variantsnssv3967644
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130947
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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