A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052402



Internal ID18794933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:739562..764851hg38UCSC Ensembl
Innerchr12:848728..874017hg19UCSC Ensembl
Innerchr12:718989..744278hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825290
hg1925290
hg1825290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1335n100
Supporting Variantsnssv3505132, nssv3514448, nssv3521146
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)nsv1052402
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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