A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970166



Internal ID18258704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132814697..132815325hg38UCSC Ensembl
Innerchr6:133135836..133136464hg19UCSC Ensembl
Innerchr6:133177529..133178157hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38629
hg19629
hg18629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2423194, nssv2423199, nssv2423196, nssv2423200, nssv2423195, nssv2423192, nssv2423198, nssv2423193, nssv2423197, nssv2423201
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS12, SNORD101
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970166
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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