A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004080



Internal ID16950346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26358098..26358427hg38UCSC Ensembl
Outerchr12:26511031..26511360hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958646
Supporting Variants
SamplesBILGI_BIOE
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004080
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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