A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121348



Internal ID18910500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51652551..51652877hg38UCSC Ensembl
Outerchr6:51517349..51517675hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3314n106
Supporting Variantsnssv3989228, nssv3958483
SamplesKWS1, KWS2
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121348
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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