A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970832



Internal ID18606054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54419264..54420663hg38UCSC Ensembl
Innerchr7:54486957..54488356hg19UCSC Ensembl
Innerchr7:54454451..54455850hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381400
hg191400
hg181400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447048, nssv2447044, nssv2447040, nssv2447049, nssv2447047, nssv2447046, nssv2447045, nssv2447042, nssv2447043, nssv2447041
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)nsv970832
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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