A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006485



Internal ID19095702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89956215..90228225hg38UCSC Ensembl
Innerchr2:89995025..90267091hg19UCSC Ensembl
Innerchr2:89632330..89904396hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38272011
hg19272067
hg18272067
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3976n100
Supporting Variantsnssv3580551, nssv3580561, nssv3580560, nssv3580549, nssv3731304, nssv3580557, nssv3580563, nssv3580564, nssv3580559, nssv3580548, nssv3731302, nssv3580556, nssv3731301, nssv3580552, nssv3580554, nssv3580562, nssv3580550, nssv3580553, nssv3580558, nssv3580565, nssv3580555, nssv3731303
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006485
Frequency
Sample Size11257
Observed Gain4
Observed Loss18
Observed Complex0
Frequencyn/a


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