A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124953



Internal ID19276149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:39007700..39013100hg38UCSC Ensembl
Outerchr7:39047300..39052700hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977759
SamplesKWS2
Known GenesPOU6F2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124953
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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