A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2210976



Internal ID17752930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173485242..173486686hg38UCSC Ensembl
Innerchr2:174349970..174351414hg19UCSC Ensembl
Innerchr2:174058216..174059660hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381445
hg191445
hg181445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963747
Supporting Variants
SamplesHGDP00521
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)nssv2210976
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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