A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997292



Internal ID16943558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2628062..2645961hg38UCSC Ensembl
Outerchr1:2559501..2577400hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3817900
hg1917900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951593
Supporting Variants
SamplesBILGI_BIOE
Known GenesMMEL1, TTC34
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997292
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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