A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2627634



Internal ID17816501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49479227..49484986hg38UCSC Ensembl
Innerchr15:49771424..49777183hg19UCSC Ensembl
Innerchr15:47558716..47564475hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg385760
hg195760
hg185760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974651
Supporting Variants
SamplesHGDP00927
Known GenesFAM227B, FGF7
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2627634
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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