A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012750



Internal ID19101967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88844243..89011844hg38UCSC Ensembl
Innerchr2:89143756..89311341hg19UCSC Ensembl
Innerchr2:88924871..89092456hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38167602
hg19167586
hg18167586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3934n100
Supporting Variantsnssv3729777, nssv3729776
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)nsv1012750
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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