A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144436



Internal ID18907375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220817516..220817580hg38UCSC Ensembl
Outerchr1:220990858..220990922hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995228
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144436
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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