A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119693



Internal ID19255067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64562361..64562413hg38UCSC Ensembl
Outerchr1:65028044..65028096hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982144
SamplesKWS1
Known GenesCACHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119693
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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