A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012603



Internal ID19101820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:147302498..147397114hg38UCSC Ensembl
Innerchr2:148060066..148154682hg19UCSC Ensembl
Innerchr2:147776536..147871152hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3894617
hg1994617
hg1894617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582946
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)nsv1012603
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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