A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600682



Internal ID18898963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25326305..25519883hg38UCSC Ensembl
Innerchr22:25722272..25915850hg19UCSC Ensembl
Innerchr22:24052272..24245850hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38193579
hg19193579
hg18193579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058192
Supporting Variants
Samples
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600682
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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