A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981168



Internal ID18269681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:96889442..96891941hg38UCSC Ensembl
Innerchr6:97337318..97339817hg19UCSC Ensembl
Innerchr6:97444039..97446538hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg382500
hg192500
hg182500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2418394, nssv2418397, nssv2418393, nssv2418398, nssv2418401, nssv2418400, nssv2418402, nssv2418396, nssv2418399, nssv2418395
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNDUFAF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981168
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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