A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952783



Internal ID16954970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1085835..1090934hg38UCSC Ensembl
Outerchr12:1195001..1200100hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999664
SamplesBILGI_BIOE
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952783
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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