A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731900



Internal ID19030181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367302..21479947hg38UCSC Ensembl
Innerchr22:21721591..21834236hg19UCSC Ensembl
Innerchr22:20051591..20164236hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38112646
hg19112646
hg18112646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060539
Supporting Variants
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3731900
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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