A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044929



Internal ID19134148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30165555..30256542hg38UCSC Ensembl
Innerchr12:30318488..30409475hg19UCSC Ensembl
Innerchr12:30209755..30300742hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3890988
hg1990988
hg1890988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1410n100
Supporting Variantsnssv3511431
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)nsv1044929
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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