A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996653



Internal ID16942919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7412874..7473273hg38UCSC Ensembl
Outerchr4:7414601..7475000hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3860400
hg1960400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949781
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR4274, PSAPL1, SORCS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996653
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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