A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012617



Internal ID19101834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228468822..228491149hg38UCSC Ensembl
Innerchr2:229333538..229355865hg19UCSC Ensembl
Innerchr2:229041782..229064109hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3822328
hg1922328
hg1822328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586840
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012617
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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