A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999688



Internal ID16945954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14389867..14466966hg38UCSC Ensembl
Outerchr12:14542801..14619900hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3877100
hg1977100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951332
Supporting Variants
SamplesBILGI_BIOE
Known GenesATF7IP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999688
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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