A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130188



Internal ID19270628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71903411..71903694hg38UCSC Ensembl
OuterchrX:71123261..71123544hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4256n106
Supporting Variantsnssv3966099
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130188
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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