A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004985



Internal ID18747516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269902..25336807hg38UCSC Ensembl
Innerchr1:25596393..25663298hg19UCSC Ensembl
Innerchr1:25468980..25535885hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3866906
hg1966906
hg1866906
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n100
Supporting Variantsnssv3700600, nssv3463510, nssv3462870, nssv3700604, nssv3465428, nssv3700607, nssv3470625, nssv3467014, nssv3480732, nssv3700602, nssv3700589, nssv3480989, nssv3478364, nssv3700609, nssv3477611, nssv3700594, nssv3700588, nssv3471301, nssv3463048, nssv3700616, nssv3468620, nssv3469479, nssv3464735, nssv3473250, nssv3700601, nssv3469976, nssv3700620, nssv3464540, nssv3476414, nssv3700611, nssv3479802, nssv3475820, nssv3700612, nssv3477242, nssv3475425, nssv3473072, nssv3478894, nssv3473836, nssv3700593, nssv3700619, nssv3465887, nssv3482080, nssv3700603, nssv3463381, nssv3475770, nssv3463439, nssv3700590, nssv3466567, nssv3470206, nssv3477687, nssv3482049, nssv3700618, nssv3700621, nssv3700592, nssv3474954, nssv3700591, nssv3474302, nssv3475847, nssv3700595, nssv3474677, nssv3700598, nssv3473361, nssv3700599, nssv3700610, nssv3472110, nssv3700615, nssv3482408, nssv3482377, nssv3700608, nssv3474207, nssv3466372, nssv3700596, nssv3479855, nssv3476332, nssv3467734, nssv3465876, nssv3700617, nssv3469018, nssv3479905, nssv3477822, nssv3465646, nssv3481375, nssv3480059, nssv3473806, nssv3475169, nssv3469975, nssv3482625, nssv3468088, nssv3479300, nssv3700614, nssv3472208, nssv3475615, nssv3700606, nssv3481742, nssv3470486, nssv3700605, nssv3700613, nssv3700597
Samples
Known GenesRHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004985
Frequency
Sample Size29084
Observed Gain3
Observed Loss95
Observed Complex0
Frequencyn/a


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