A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997648



Internal ID16943914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:50304305..50331004hg38UCSC Ensembl
Outerchr7:50343901..50370600hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3826700
hg1926700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950213
Supporting Variants
SamplesBILGI_BIOE
Known GenesIKZF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997648
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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