A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144842



Internal ID18903930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79395300..79396800hg38UCSC Ensembl
Outerchr18:77155300..77156800hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981439
SamplesKWS1
Known GenesNFATC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144842
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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