A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946740



Internal ID18593590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149108690..149119826hg38UCSC Ensembl
Innerchr1:144577399..144588546hg19UCSC Ensembl
Innerchr1:143288756..143299903hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811137
hg1911148
hg1811148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2581261, nssv2581256, nssv2581258, nssv2581257, nssv2581263, nssv2581264, nssv2581265, nssv2581260, nssv2581262, nssv2581259
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946740
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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