A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3002658



Internal ID16948924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864235..8865266hg38UCSC Ensembl
Outerchr12:9016831..9017862hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957391
Supporting Variants
SamplesBILGI_BIOE
Known GenesA2ML1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3002658
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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