A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556950



Internal ID330068
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 StatusM
Merged Variants
Supporting Variantsnssv16995511
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)nsv5556950
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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