A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2637845



Internal ID17525515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30243214..30250999hg38UCSC Ensembl
Innerchr16:30254535..30262320hg19UCSC Ensembl
Innerchr16:30162036..30169821hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387786
hg197786
hg187786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978220
Supporting Variants
SamplesHGDP01284
Known GenesLOC613037
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)nssv2637845
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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