A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113169



Internal ID19279703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120175834..120179977hg38UCSC Ensembl
Outerchr1:145092948..145097094hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384144
hg194147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv178n106
Supporting Variantsnssv3968068
SamplesKWS2
Known GenesLOC100288142, NBPF9, SEC22B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113169
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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