A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309962



Internal ID22117711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7650807..7652177hg38UCSC Ensembl
chr1:7710867..7712237hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195912
Supporting Variants
SamplesHG00512
Known GenesCAMTA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309962
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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