A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127521



Internal ID18905831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84372612..84372670hg38UCSC Ensembl
Outerchr16:84406218..84406276hg19UCSC 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 Variantsnssv3955250
SamplesKWS1
Known GenesATP2C2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127521
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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