A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997352



Internal ID16943618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113461896..113480195hg38UCSC Ensembl
Outerchr12:113899701..113918000hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3818300
hg1918300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952482
Supporting Variants
SamplesBILGI_BIOE
Known GenesLHX5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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