A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953944



Internal ID16956131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2283702..2525802hg38UCSC Ensembl
Outerchr19:2283701..2525800hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38242101
hg19242100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998923
SamplesBILGI_BIOE
Known GenesGADD45B, GNG7, LINGO3, LMNB2, LSM7, MIR7108, SPPL2B, TIMM13, TMPRSS9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953944
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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