A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120968



Internal ID19276529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95519463..95519728hg38UCSC Ensembl
OuterchrX:45587553..45587863hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38266
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4234n106
Supporting Variantsnssv3964180
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120968
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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