A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2405090



Internal ID17874672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35023464..35024212hg38UCSC Ensembl
Innerchr6:34991241..34991989hg19UCSC Ensembl
Innerchr6:35099219..35099967hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965715
Supporting Variants
SamplesHGDP01284
Known GenesANKS1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2405090
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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