A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001548



Internal ID17294500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67524736..67525067hg38UCSC Ensembl
Outerchr17:65520852..65521183hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955433
Supporting Variants
SamplesBILGI_BIOE
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001548
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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