A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126696



Internal ID19274825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:104491143..104492343hg38UCSC Ensembl
Outerchr4:105412300..105413500hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984963
SamplesKWS1
Known GenesCXXC4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126696
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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