A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052713



Internal ID18795244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56454252..56523818hg38UCSC Ensembl
Innerchr12:56848036..56917602hg19UCSC Ensembl
Innerchr12:55134303..55203869hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3869567
hg1969567
hg1869567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523601
Samples
Known GenesGLS2, MIP, RBMS2, SPRYD4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052713
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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