A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995511



Internal ID64448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44712903..47388095hg38UCSC Ensembl
chr7:44752502..47427692hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382675193
hg192675191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556950
Supporting Variants
Samples
Known GenesADCY1, CCM2, H2AFV, IGFBP1, IGFBP3, MIR4657, MYO1G, NACAD, PPIA, PURB, RAMP3, SEPT7P2, SNHG15, SNORA5A, SNORA5B, SNORA5C, SNORA9, TBRG4, TNS3, ZMIZ2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995511
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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