A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004081



Internal ID16950347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29420514..29420808hg38UCSC Ensembl
Outerchr12:29573447..29573741hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958647
Supporting Variants
SamplesBILGI_BIOE
Known GenesOVCH1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004081
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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