A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121071



Internal ID19274610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150718959..150719293hg38UCSC Ensembl
Outerchr1:150691435..150691769hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv199n106
Supporting Variantsnssv3964288, nssv3995179
SamplesKWS2, KWS1
Known GenesHORMAD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121071
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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