A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121794



Internal ID19274885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240207600..240208500hg38UCSC Ensembl
Outerchr1:240370900..240371800hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv307n106
Supporting Variantsnssv3968443
SamplesKWS2
Known GenesFMN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121794
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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