A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135447



Internal ID18938495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1754845..1755160hg38UCSC Ensembl
Outerchr12:1864011..1864326hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751n106
Supporting Variantsnssv3966236, nssv3963036
SamplesKWS2, KWS1
Known GenesADIPOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135447
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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