A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126723



Internal ID18937234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134004009..134004809hg38UCSC Ensembl
Outerchr5:133339700..133340500hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984991
SamplesKWS1
Known GenesVDAC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126723
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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