A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985639



Internal ID18868267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8861947..8862011hg38UCSC Ensembl
Outerchr12:9014543..9014607hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127246
Supporting Variants
SamplesKWS1
Known GenesA2ML1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985639
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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