A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976934



Internal ID18612140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49475359..49480113hg38UCSC Ensembl
Innerchr15:49767556..49772310hg19UCSC Ensembl
Innerchr15:47554848..47559602hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384755
hg194755
hg184755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2024018, nssv2024022, nssv2024024, nssv2024020, nssv2024019, nssv2024021, nssv2024016, nssv2024017, nssv2024015, nssv2024023
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM227B, FGF7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976934
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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