A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957275



Internal ID16959462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1090765..1090942hg38UCSC Ensembl
Outerchr12:1199931..1200108hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004169
SamplesBILGI_BIOE
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957275
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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