A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978218



Internal ID18266737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30221867..30225862hg38UCSC Ensembl
Innerchr16:30233188..30237183hg19UCSC Ensembl
Innerchr16:30140689..30144684hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383996
hg193996
hg183996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2637656, nssv2637654, nssv2637648, nssv2637655, nssv2637653, nssv2637651, nssv2637652, nssv2637650, nssv2637649, nssv2637657
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC613037
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978218
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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