A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000232



Internal ID17293184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4889406..4892705hg38UCSC Ensembl
Outerchr17:4792701..4796000hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952113
Supporting Variants
SamplesBILGI_BIOE
Known GenesMINK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000232
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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