A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970839



Internal ID18606061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56115967..56128581hg38UCSC Ensembl
Innerchr7:56183660..56196274hg19UCSC Ensembl
Innerchr7:56151154..56163768hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3812615
hg1912615
hg1812615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2449124, nssv2449123, nssv2449122, nssv2449127, nssv2449119, nssv2449121, nssv2449125, nssv2449128, nssv2449120, nssv2449126
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNUPR1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970839
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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