A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155772



Internal ID22086277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21371709..21491005hg38UCSC Ensembl
Outerchr22:21367431..21491066hg38UCSC Ensembl
Innerchr22:21725998..21845294hg19UCSC Ensembl
Outerchr22:21721720..21845355hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38123636
hg19123636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4015019, nssv4015024, nssv4015017, nssv4015018, nssv4015022, nssv4015021, nssv4015023, nssv4015016, nssv4015020
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155772
Frequency
Sample Size131
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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