A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999979



Internal ID18812829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109684866..109700319hg38UCSC Ensembl
Innerchr1:110227488..110242941hg19UCSC Ensembl
Innerchr1:110029011..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3815454
hg1915454
hg1815454
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3497979, nssv3484852, nssv3500340, nssv3702370, nssv3499791, nssv3483746, nssv3702372, nssv3702363, nssv3702371, nssv3488173, nssv3484651, nssv3483808, nssv3702366, nssv3484392, nssv3702369, nssv3499995, nssv3492476, nssv3492317, nssv3702368, nssv3492424, nssv3499153, nssv3495618, nssv3494118, nssv3702367, nssv3489301, nssv3497446, nssv3499399, nssv3496334, nssv3497231, nssv3702364, nssv3702365, nssv3496243, nssv3502573
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)nsv999979
Frequency
Sample Size29084
Observed Gain9
Observed Loss24
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer