A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113191



Internal ID18911776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167412403..167412464hg38UCSC Ensembl
Outerchr1:167381640..167381701hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968092, nssv3982505
SamplesKWS1, KWS2
Known GenesPOU2F1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113191
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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