A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975273



Internal ID18892141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:71628469..71628533hg38UCSC Ensembl
Outerchr7:71093454..71093518hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114975
Supporting Variants
SamplesKWS2
Known GenesWBSCR17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975273
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