A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2600320



Internal ID17848131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149555007..149558022hg38UCSC Ensembl
Innerchr1:148594716..148597910hg19UCSC Ensembl
Innerchr1:146861340..146864534hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383016
hg193195
hg183195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946982
Supporting Variants
SamplesHGDP01029
Known GenesLOC101929780, NBPF15, NBPF16
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2600320
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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