A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2614924



Internal ID17530077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47533859..47535644hg38UCSC Ensembl
Innerchr10:48933284..48935071hg19UCSC Ensembl
Innerchr10:48553290..48555077hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381786
hg191788
hg181788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971755
Supporting Variants
SamplesHGDP01307
Known GenesBMS1P1, BMS1P5
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)nssv2614924
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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