A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048331



Internal ID19137550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19934474..19956028hg38UCSC Ensembl
Innerchr16:19945796..19967350hg19UCSC Ensembl
Innerchr16:19853297..19874851hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3821555
hg1921555
hg1821555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2789n100
Supporting Variantsnssv3546967, nssv3546980, nssv3719258, nssv3719257, nssv3546971, nssv3546988, nssv3546989, nssv3546975, nssv3546987, nssv3546974, nssv3719259, nssv3546968, nssv3546972, nssv3546986, nssv3719256, nssv3546969, nssv3546982, nssv3546970, nssv3546964, nssv3546960, nssv3546965, nssv3719260, nssv3546984, nssv3546983, nssv3546977, nssv3546978, nssv3546985, nssv3546976, nssv3546962, nssv3546963, nssv3546990, nssv3546979, nssv3546966, nssv3546973, nssv3546981, nssv3719255, nssv3546961
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)nsv1048331
Frequency
Sample Size11257
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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