A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133924



Internal ID18910836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184967905..184968227hg38UCSC Ensembl
Outerchr1:184937037..184937359hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970637, nssv3982513
SamplesKWS1, KWS2
Known GenesFAM129A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133924
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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