A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970551



Internal ID18605773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93844754..93846536hg38UCSC Ensembl
Innerchr7:93474066..93475848hg19UCSC Ensembl
Innerchr7:93312002..93313784hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381783
hg191783
hg181783
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2470004, nssv2470009, nssv2470010, nssv2470008, nssv2470011, nssv2470003, nssv2470012, nssv2470006, nssv2470007, nssv2470005
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970551
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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