A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999912



Internal ID19159448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109690340..109707602hg38UCSC Ensembl
Innerchr1:110232962..110250224hg19UCSC Ensembl
Innerchr1:110034485..110051747hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3817263
hg1917263
hg1817263
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv275n100
Supporting Variantsnssv3490131, nssv3489669, nssv3497857, nssv3493839, nssv3487014, nssv3499211, nssv3483557, nssv3486605, nssv3702401, nssv3498357, nssv3488546, nssv3482933, nssv3496530, nssv3501187, nssv3501312, nssv3489905, nssv3483636, nssv3483051, nssv3494670, nssv3491627, nssv3502265, nssv3497398, nssv3489065, nssv3491435, nssv3492086, nssv3499665, nssv3489768, nssv3483140, nssv3496280, nssv3498589, nssv3494258, nssv3497562, nssv3487389, nssv3485441
Samples
Known GenesGSTM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999912
Frequency
Sample Size11257
Observed Gain8
Observed Loss26
Observed Complex0
Frequencyn/a


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