A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2581274



Internal ID17852585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149084723..149091110hg38UCSC Ensembl
Innerchr1:144606153..144612556hg19UCSC Ensembl
Innerchr1:143317510..143323913hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386388
hg196404
hg186404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946741
Supporting Variants
SamplesHGDP01029
Known GenesLOC100288142, NBPF12, PFN1P2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2581274
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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