A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2173702



Internal ID17883178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64492826..64495785hg38UCSC Ensembl
Innerchr2:64719960..64722919hg19UCSC Ensembl
Innerchr2:64573464..64576423hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382960
hg192960
hg182960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979010
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2173702
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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