A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057617



Internal ID18800148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37462633..37713698hg38UCSC Ensembl
Innerchr22:37858671..38109705hg19UCSC Ensembl
Innerchr22:36188617..36439651hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38251066
hg19251035
hg18251035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600875
Samples
Known GenesCARD10, CDC42EP1, GGA1, LGALS1, LGALS2, MFNG, NOL12, PDXP, SH3BP1, TRIOBP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057617
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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