A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994675



Internal ID19214997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160407389..160407989hg38UCSC Ensembl
Outerchr2:161263900..161264500hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143963
Supporting Variants
SamplesKWS1
Known GenesMIR4785, RBMS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994675
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