A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014939



Internal ID19104156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106771852..106883422hg38UCSC Ensembl
Innerchr2:107388308..107499878hg19UCSC Ensembl
Innerchr2:106754740..106866310hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38111571
hg19111571
hg18111571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580116
Samples
Known GenesST6GAL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014939
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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