A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977548



Internal ID19227501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44015001..44020601hg38UCSC Ensembl
Outerchr7:44054600..44060200hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115741
Supporting Variants
SamplesKWS2
Known GenesPOLR2J4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977548
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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