A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946978



Internal ID18593828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149518007..149534439hg38UCSC Ensembl
Innerchr1:148591098..148593305hg19UCSC Ensembl
Innerchr1:146857722..146859929hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3816433
hg192208
hg182208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2600107, nssv2600111, nssv2600145, nssv2600116, nssv2600144, nssv2600114, nssv2600146, nssv2600142, nssv2600141, nssv2600140, nssv2600109, nssv2600115, nssv2600108, nssv2600147, nssv2600112, nssv2600110, nssv2600143, nssv2600149, nssv2600113, nssv2600148
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF15, NBPF16
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946978
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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