A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143577



Internal ID19252947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123533553..123534153hg38UCSC Ensembl
Outerchr12:124018100..124018700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv886n106
Supporting Variantsnssv3981250
SamplesKWS1
Known GenesRILPL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143577
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer