A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982312



Internal ID18270821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83809239..83875131hg38UCSC Ensembl
Innerchr9:86424154..86490046hg19UCSC Ensembl
Innerchr9:85613974..85679866hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3865893
hg1965893
hg1865893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2554604, nssv2554608, nssv2554610, nssv2554603, nssv2554609, nssv2554605, nssv2554607, nssv2554606, nssv2554612, nssv2554611
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGKAP1, KIF27
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982312
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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