A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999728



Internal ID16945994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50070218..50079817hg38UCSC Ensembl
Outerchr12:50464001..50473600hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg389600
hg199600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952179
Supporting Variants
SamplesBILGI_BIOE
Known GenesASIC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999728
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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