A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130618



Internal ID19274762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95519463..95519731hg38UCSC Ensembl
OuterchrX:45587559..45587866hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38269
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4234n106
Supporting Variantsnssv3966932, nssv3974262
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130618
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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