A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003264



Internal ID19092482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194047718..194123143hg38UCSC Ensembl
Innerchr2:194912442..194987867hg19UCSC Ensembl
Innerchr2:194620687..194696112hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3875426
hg1975426
hg1875426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4144n100
Supporting Variantsnssv3583951, nssv3583952, nssv3583960, nssv3583959, nssv3729322, nssv3583943, nssv3583956, nssv3583946, nssv3729321, nssv3729323, nssv3583955, nssv3583958, nssv3583953, nssv3583949, nssv3583954, nssv3583944, nssv3583948, nssv3729320, nssv3583950, nssv3583945, nssv3583947, nssv3583957
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)nsv1003264
Frequency
Sample Size11257
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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