A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2315675



Internal ID17851490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:30884478..30887812hg38UCSC Ensembl
Innerchr4:30886100..30889434hg19UCSC Ensembl
Innerchr4:30495198..30498532hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg383335
hg193335
hg183335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966258
Supporting Variants
SamplesHGDP01029
Known GenesPCDH7
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)nssv2315675
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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