A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002192



Internal ID19091409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89222453..90282526hg38UCSC Ensembl
Innerchr2:89521934..90321385hg19UCSC Ensembl
Innerchr2:89303049..89958690hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381060074
hg19799452
hg18655642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3968n100
Supporting Variantsnssv3582530, nssv3582534, nssv3582533, nssv3582529, nssv3582523, nssv3582526, nssv3730027, nssv3730030, nssv3582525, nssv3582528, nssv3730029, nssv3730025, nssv3730028, nssv3582532, nssv3730026, nssv3582527, nssv3582522, nssv3582531, nssv3582524
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)nsv1002192
Frequency
Sample Size11257
Observed Gain8
Observed Loss11
Observed Complex0
Frequencyn/a


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