A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17501251



Internal ID22559189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130990289..131000278hg38UCSC Ensembl
chr7:130675048..130685037hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg389990
hg199990
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855227
Supporting Variants
Samples
Known GenesLINC-PINT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17501251
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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