A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964963



Internal ID18600198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150087590..150101746hg38UCSC Ensembl
Innerchr5:149467153..149481309hg19UCSC Ensembl
Innerchr5:149447346..149461502hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814157
hg1914157
hg1814157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383009, nssv2383010, nssv2383011, nssv2383008, nssv2383007, nssv2383013, nssv2383006, nssv2383012, nssv2383005, nssv2383014
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCSF1R
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964963
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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