A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997983



Internal ID17290935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:48096558..48174957hg38UCSC Ensembl
Outerchr10:49304601..49383000hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3878400
hg1978400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950951
Supporting Variants
SamplesBILGI_BIOE
Known GenesFRMPD2, FRMPD2P1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997983
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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