A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997640



Internal ID16943906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44319902..44328901hg38UCSC Ensembl
Outerchr7:44359501..44368500hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951638
Supporting Variants
SamplesBILGI_BIOE
Known GenesCAMK2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997640
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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