A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136249



Internal ID19267534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:25348336..25352236hg38UCSC Ensembl
Outerchr18:22928300..22932200hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989863
SamplesKWS2
Known GenesZNF521
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136249
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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