A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764412



Internal ID19309842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47866619..47866678hg38UCSC Ensembl
Outerchr7:47906217..47906276hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078987
Supporting Variants
SamplesKWP1
Known GenesPKD1L1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764412
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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