A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001778



Internal ID19090995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194047718..194122957hg38UCSC Ensembl
Innerchr2:194912442..194987681hg19UCSC Ensembl
Innerchr2:194620687..194695926hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3875240
hg1975240
hg1875240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4144n100
Supporting Variantsnssv3583941, nssv3583942
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)nsv1001778
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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