A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145579



Internal ID18924389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1728551..1728617hg38UCSC Ensembl
Outerchr12:1837717..1837783hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983230
SamplesKWS1
Known GenesADIPOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145579
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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