A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006484



Internal ID19095701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194047718..194112012hg38UCSC Ensembl
Innerchr2:194912442..194976736hg19UCSC Ensembl
Innerchr2:194620687..194684981hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3864295
hg1964295
hg1864295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4144n100
Supporting Variantsnssv3583938, nssv3583930, nssv3583927, nssv3729317, nssv3583940, nssv3583934, nssv3583939, nssv3729319, nssv3583935, nssv3729318, nssv3583931, nssv3729315, nssv3583937, nssv3583928, nssv3729316, nssv3583932, nssv3583933, nssv3583936, nssv3583929
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)nsv1006484
Frequency
Sample Size11257
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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