A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047085



Internal ID19136304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66658604..66805841hg38UCSC Ensembl
Innerchr12:67052384..67199621hg19UCSC Ensembl
Innerchr12:65338651..65485888hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38147238
hg19147238
hg18147238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524594
Samples
Known GenesGRIP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047085
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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