A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006365



Internal ID19095582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833599..88867114hg38UCSC Ensembl
Innerchr2:89133112..89166626hg19UCSC Ensembl
Innerchr2:88914227..88947741hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3833516
hg1933515
hg1833515
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3728889, nssv3728891, nssv3728888, nssv3728890
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)nsv1006365
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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