A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612400



Internal ID16399809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136837820hg38UCSC Ensembl
Innerchr8:137687955..137850063hg19UCSC Ensembl
Innerchr8:137757137..137919245hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38162109
hg19162109
hg18162109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1156177, nssv1122271, nssv1122273, nssv1156176, nssv1156175, nssv1122274, nssv1122272
Samples1780862452_A, NINDS_240, HGDP00584
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612400
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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