A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047237



Internal ID18789768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:746687..764851hg38UCSC Ensembl
Innerchr12:855853..874017hg19UCSC Ensembl
Innerchr12:726114..744278hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3818165
hg1918165
hg1818165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1335n100
Supporting Variantsnssv3503241, nssv3522177, nssv3510968, nssv3505830, nssv3513186
Samples
Known GenesWNK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047237
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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