A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142594



Internal ID18920405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86094..373365hg38UCSC Ensembl
Outerchr4:85985..367154hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38287272
hg19281170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2697n106
Supporting Variantsnssv3994081
SamplesKWS1
Known GenesZNF141, ZNF595, ZNF718, ZNF732, ZNF876P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142594
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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