A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047428



Internal ID18789959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14398551..14456148hg38UCSC Ensembl
Innerchr12:14551485..14609082hg19UCSC Ensembl
Innerchr12:14442752..14500349hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3857598
hg1957598
hg1857598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518603
Samples
Known GenesATF7IP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047428
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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