A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2445565



Internal ID17880617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43997809..44009977hg38UCSC Ensembl
Innerchr7:44037408..44049576hg19UCSC Ensembl
Innerchr7:44003933..44016101hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3812169
hg1912169
hg1812169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970822
Supporting Variants
SamplesHGDP01307
Known GenesPOLR2J4, SPDYE1
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)nssv2445565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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