A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2605184



Internal ID17461659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206206782..206207371hg38UCSC Ensembl
Innerchr1:206133959..206134548hg19UCSC Ensembl
Innerchr1:204300582..204301171hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv947048
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2605184
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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