A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138594



Internal ID18927620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2748435..2748507hg38UCSC Ensembl
Outerchr18:2748433..2748505hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991184
SamplesKWS2
Known GenesSMCHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138594
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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