A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997590



Internal ID16943856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1381265..1675664hg38UCSC Ensembl
Outerchr7:1420901..1715300hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38294400
hg19294400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950786
Supporting Variants
SamplesBILGI_BIOE
Known GenesINTS1, MAFK, MICALL2, PSMG3, PSMG3-AS1, TFAMP1, TMEM184A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997590
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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