A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970789



Internal ID18259325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5918814..5987417hg38UCSC Ensembl
Innerchr7:5958445..6027048hg19UCSC Ensembl
Innerchr7:5924971..5993574hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3868604
hg1968604
hg1868604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2434385, nssv2434378, nssv2434380, nssv2434377, nssv2434384, nssv2434379, nssv2434383, nssv2434376, nssv2434381, nssv2434382
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCZ1, PMS2, RSPH10B, RSPH10B2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970789
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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