A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056188



Internal ID19145407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16599705..16865315hg38UCSC Ensembl
Innerchr22:17080595..17346205hg19UCSC Ensembl
Innerchr22:15460595..15726205hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38265611
hg19265611
hg18265611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4461n100
Supporting Variantsnssv3589320
Samples
Known GenesANKRD62P1-PARP4P3, HSFY1P1, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056188
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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