A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109730



Internal ID19250433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140419919..140419995hg38UCSC Ensembl
Outerchr5:139799504..139799580hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957314
SamplesKWS1
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109730
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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