A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2668830



Internal ID17770110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94847098..94848296hg38UCSC Ensembl
Innerchr2:95512843..95514041hg19UCSC Ensembl
Innerchr2:94876570..94877768hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963819
Supporting Variants
SamplesHGDP00542
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2668830
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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