A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730084



Internal ID21400900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95761051..96049682hg38UCSC Ensembl
chr2:96426799..96715430hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38288632
hg19288632
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257655, nssv16256558, nssv16256167, nssv16256635, nssv16257645, nssv16258770, nssv16257844, nssv16255962, nssv16257540, nssv16256669, nssv16256330, nssv16258364, nssv16255957, nssv16258377, nssv16258201, nssv16255885
SamplesNA19239, HG00731, NA19240, HG00733
Known GenesFAHD2CP, GPAT2, LINC00342
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730084
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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