A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2693832



Internal ID17886817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49486925..49492597hg38UCSC Ensembl
Innerchr4:49488942..49494614hg19UCSC Ensembl
Innerchr4:49183599..49189371hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg385673
hg195673
hg185773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980202
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2693832
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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