A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042727



Internal ID18785258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:9998145..10427239hg38UCSC Ensembl
Innerchr16:10092002..10521096hg19UCSC Ensembl
Innerchr16:9999503..10428597hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38429095
hg19429095
hg18429095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2727n100
Supporting Variantsnssv3718875, nssv3557123
Samples
Known GenesATF7IP2, GRIN2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042727
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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