A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121295



Internal ID18908324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85739602..85739924hg38UCSC Ensembl
Outerchr4:86660755..86661077hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2843n106
Supporting Variantsnssv3965756, nssv3970821
SamplesKWS2, KWS1
Known GenesARHGAP24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121295
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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