A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135524



Internal ID18911806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19147209..19147483hg38UCSC Ensembl
Outerchr19:19258018..19258292hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1730n106
Supporting Variantsnssv3989460, nssv3966310
SamplesKWS2, KWS1
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135524
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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