A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2604445



Internal ID17741482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143421035..143431401hg38UCSC Ensembl
Innerchr1:148921596..148931958hg19UCSC Ensembl
Innerchr1:147188220..147198582hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3810367
hg1910363
hg1810363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946352
Supporting Variants
SamplesHGDP00456
Known GenesLOC101929780, LOC645166
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2604445
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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