A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134996



Internal ID18905687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1754838..1755156hg38UCSC Ensembl
Outerchr12:1864004..1864322hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751n106
Supporting Variantsnssv3988539
SamplesKWS2
Known GenesADIPOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134996
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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