A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123075



Internal ID18913981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84372891..84372949hg38UCSC Ensembl
Outerchr16:84406497..84406555hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972050, nssv3954497
SamplesKWS1, KWS2
Known GenesATP2C2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123075
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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