A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946984



Internal ID18593834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149564904..149583905hg38UCSC Ensembl
Innerchr1:148625148..148644093hg19UCSC Ensembl
Innerchr1:146891772..146910717hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3819002
hg1918946
hg1818946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2601383, nssv2601375, nssv2601380, nssv2601381, nssv2601382, nssv2601376, nssv2601378, nssv2601377, nssv2601384, nssv2601379
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946984
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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