A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971758



Internal ID18260289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50000727..50002888hg38UCSC Ensembl
Innerchr10:51232289..51234452hg19UCSC Ensembl
Innerchr10:50902295..50904458hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg382162
hg192164
hg182164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2615174, nssv2615172, nssv2615173, nssv2615179, nssv2615170, nssv2615175, nssv2615177, nssv2615171, nssv2615176, nssv2615178
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGAP8, PARG
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971758
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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