A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970555



Internal ID18259091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97873494..98009842hg38UCSC Ensembl
Innerchr7:97502806..97639154hg19UCSC Ensembl
Innerchr7:97340742..97477090hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38136349
hg19136349
hg18136349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2469550, nssv2469555, nssv2469552, nssv2469549, nssv2469546, nssv2469548, nssv2469551, nssv2469553, nssv2469554, nssv2469547
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMGC72080, OCM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970555
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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