A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2594281



Internal ID17402875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148540777..148541431hg38UCSC Ensembl
Innerchr1:148266044..148266718hg19UCSC Ensembl
Innerchr1:146632668..146633342hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38655
hg19675
hg18675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946887
Supporting Variants
SamplesHGDP00521
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2594281
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer